Cardiología

El diagnóstico genético es el modo más eficiente de clasificar una enfermedad cardiovascular hereditaria y permite obtener la información necesaria para elegir un tratamiento correcto. Además, permite identificar a familiares en riesgo con el objetivo de realizar tratamientos preventivos y/o comenzar un estilo de vida adecuado.

 

ESTUDIOS DISPONIBLES:

  • CADASIL
  • Estudio de apolipoproteína E para enfermedad cardiovascular
  • MTHFR

 

PANELES:

Panel Básico de Hiperlipidemia

APOB

Hypercholesterolemia, Hypobetalipoproteinemia

LDLR

Hypercholesterolemia

LDLRAP1

Hypercholesterolemia

PCSK9

Hypercholesterolemia

Panel Completo de Cardiología

A2ML1

Noonan syndrome

AARS2

Leukoencephalopathy, progressive, with ovarian failure

ABCB4

Cholestasis, Gallbladder disease, Low phospholipid-associated cholelithiasis

ABCC9

Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)

ACAD9

Acyl-CoA dehydrogenase family, deficiency

ACADVL

Acyl-CoA dehydrogenase, very long chain, deficiency

ACTA1

Myopathy

ACTA2

Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome

ACTC1

Atrial septal defect, Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

ACTN2

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

AGK

Sengers syndrome

AGL

Glycogen storage disease

AKAP9

Long QT syndrome

ALPK3

Pediatric cardiomyopathy

ANK2

Cardiac arrhythmia, Long QT syndrome

ANKRD1

Familial dilated cardiomyopathy

ANO5

Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies

APOA1

Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia

APOB

Hypercholesterolemia, Hypobetalipoproteinemia

BAG3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

BRAF

Cardiofaciocutaneous syndrome, LEOPARD syndrome, Noonan syndrome

CACNA1C

Brugada syndrome, Timothy syndrome

CACNA2D4

Retinal cone dystrophy

CACNB2

Brugada syndrome

CALM1

Long QT syndrome, Recurrent cardiac arrest, infantile, Ventricular tachycardia, catecholaminergic polymorphic

CALM2

Long QT syndrome

CALM3

Catecholaminergic polymorphic ventricular tachycardia

CAPN3

Eosinophilic myositis, Muscular dystrophy, limb-girdle

CASQ2

Ventricular tachycardia, catecholaminergic, polymorphic

CAV3

Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome

CBL

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

CHKB

Muscular dystrophy, congenital, megaconial

COX15

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Leigh syndrome

CPT1A

Carnitine palmitoyltransferase deficiency

CPT2

Carnitine palmitoyltransferase II deficiency

CRYAB

Cataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

CSRP3

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

CTNNA3

Arrhythmogenic right ventricular dysplasia

DAG1

Muscular dystrophy-dystroglycanopathy

DBH

Dopamine beta-hydroxylase deficiency

DES

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

DMD

Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy

DNAJC19

3-methylglutaconic aciduria

DSC2

Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair

DSG2

Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)

DSP

Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

DYSF

Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset

EMD

Emery-Dreifuss muscular dystrophy

ENPP1

Arterial calcification, Hypophosphatemic rickets

ETFA

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFB

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFDH

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

EYA4

Dilated cardiomyopathy (DCM)

FBXO32

Dilated cardiomyopathy (DCM)

FHL1

Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy

FKRP

Muscular dystrophy-dystroglycanopathy

FKTN

Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle)

FLNC

Myopathy

FOXRED1

Leigh syndrome, Mitochondrial complex I deficiency

FXN

Friedreich ataxia

GAA

Glycogen storage disease

GATA5

Familial atrial fibrillation, Single ventricular septal defect, Tetralogy of Fallot

GATAD1

Dilated cardiomyopathy (DCM)

GBE1

Glycogen storage disease

GFM1

Combined oxidative phosphorylation deficiency

GJA5

Atrial fibrillation, Atrial standstill, digenic, Progressive familial heart block

GLA

Fabry disease

GLB1

GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)

GMPPB

Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)

GNE

Inclusion body myopathy, Nonaka myopathy, Sialuria

GUSB

Mucopolysaccharidosis

HCN4

Brugada syndrome, Sick sinus syndrome

HFE

Hemochromatosis

HRAS

Congenital myopathy with excess of muscle spindles, Costello syndrome

ISPD

Muscular dystrophy-dystroglycanopathy

JPH2

Hypertrophic cardiomyopathy (HCM)

JUP

Arrhythmogenic right ventricular dysplasia, Naxos disease

KCNA5

Atrial fibrillation

KCND3

Brugada syndrome

KCNE1

Jervell and Lange-Nielsen syndrome, Long QT syndrome

KCNE2

Atrial fibrillation, familial, Long QT syndrome

KCNE3

Brugada syndrome

KCNH2

Long QT syndrome, Short QT syndrome

KCNJ2

Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome

KCNJ5

Hyperaldosteronism, familial, Long QT syndrome

KCNQ1

Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome

KRAS

Cardiofaciocutaneous syndrome, Noonan syndrome

LAMA2

Muscular dystrophy, congenital merosin-deficient, Schizophrenia

LAMP2

Danon disease

LARGE

Muscular dystrophy-dystroglycanopathy

LDB3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

LMNA

Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type

LZTR1

Noonan syndrome, Schwannomatosis

MAP2K1

Cardiofaciocutaneous syndrome

MAP2K2

Cardiofaciocutaneous syndrome

MTO1

Combined oxidative phosphorylation deficiency

MYBPC3

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

MYH6

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

MYH7

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage

MYL2

Hypertrophic cardiomyopathy (HCM)

MYL3

Hypertrophic cardiomyopathy (HCM)

MYOT

Myopathy, myofibrillar

MYPN

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

NEXN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

NF1

Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome

NKX2-5

Atrial septal defect, Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,

NOS1AP

Romano-Ward syndrome

NRAS

Noonan syndrome

NSUN2

Dubowitz syndrome, Non-syndromic intellectual disability

PKP2

Arrhythmogenic right ventricular dysplasia

PLEC

Epidermolysis bullosa, Muscular dystrophy, limb-girdle

PLEKHM2

Dilated cardiomyopathy (DCM), left ventricular noncompaction

PLN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

PNPLA2

Neutral lipid storage disease with myopathy

POMGNT1

Muscular dystrophy-dystroglycanopathy

POMT1

Muscular dystrophy-dystroglycanopathy

POMT2

Muscular dystrophy-dystroglycanopathy

PRDM16

Dilated cardiomyopathy (DCM), Left ventricular noncompaction

PRKAG2

Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome

PTPN11

LEOPARD syndrome, Metachondromatosis, Noonan syndrome

RAF1

Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome

RASA2

Noonan syndrome

RBM20

Dilated cardiomyopathy (DCM)

RIT1

Noonan syndrome

RRAS

Noonan-syndrome like phenotype

RYR2

Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic

SCN1B

Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus

SCN3B

Atrial fibrillation, familial, Brugada syndrome

SCN5A

Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation

SCN10A

Brugada syndrome, Channelopathy-associated congenital insensitivity to pain, Paroxysmal extreme pain disorder, Primary erythermalgia, Sodium channelopathy-related small fiber neuropathy

SCNN1B

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

SCNN1G

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

SCO2

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia

SDHA

Dilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas

SELENON

Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion

SGCA

Muscular dystrophy, limb-girdle

SGCB

Muscular dystrophy, limb-girdle

SGCD

Dilated cardiomyopathy (DCM), Muscular dystrophy, limb-girdle

SGCG

Muscular dystrophy, limb-girdle

SHOC2

Noonan-like syndrome with loose anagen hair

SLC22A5

Carnitine deficiency, systemic primary

SLC25A4

Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions

SLC25A20

Carnitine-acylcarnitine translocase deficiency

SMCHD1

Facioscapulohumeral muscular dystrophy

SOS1

Noonan syndrome

SPRED1

Legius syndrome

TAZ

3-Methylglutaconic aciduria, (Barth syndrome)

TBX5

Holt-Oram syndrome

TCAP

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle

TGFB3

Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)

TMEM43

Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy

TMEM70

Mitochondrial complex V (ATP synthase) deficiency

TNNC1

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TNNI3

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TNNT2

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

TPM1

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TRDN

Ventricular tachycardia, catecholaminergic polymorphic

TRIM32

Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle

TRPM4

Progressive familial heart block

TSFM

Combined oxidative phosphorylation deficiency

TTN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TTR

Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia

VCL

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

VCP

Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Inclusion body myopathy with early-onset Paget disease

XK

McLeod syndrome

Panel de Anomalías Cardíacas Congénitas

ACTA2

Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome

ACTC1

Atrial septal defect, Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

BMPR2

Pulmonary hypertension, primary, Pulmonary venoocclusive disease

CHD7

CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency

CTC1

Cerebroretinal microangiopathy with calcifications and cysts

ELN

Cutis laxa, Supravalvular aortic stenosis

FLNA

Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects

FOXC1

Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly

FOXH1

Congenital heart malformations, Holoprosencephaly

G6PC3

Dursun syndrome, Neutropenia, severe congenital

GATA4

Atrial septal defect, Atrioventricular septal defect, Testicular anomalies with or without congenital heart disease, Tetralogy of Fallot, Ventricular septal defect

GATA5

Familial atrial fibrillation, Single ventricular septal defect, Tetralogy of Fallot

GATA6

Heart defects, congenital, and other congenital anomalies

GJA1

Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3

GJA5

Atrial fibrillation, Atrial standstill, digenic, Progressive familial heart block

HRAS

Congenital myopathy with excess of muscle spindles, Costello syndrome

JAG1

Alagille syndrome

NF1

Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome

NKX2-5

Atrial septal defect, Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,

NODAL

Heterotaxy, visceral

NOTCH1

Aortic valve disease

NOTCH2

Alagille syndrome, Hajdu-Cheney syndrome

TBX1

Conotruncal anomaly face syndrome

TBX5

Holt-Oram syndrome

TFAP2B

Char syndrome, Patent ductus arteriosus, nonsyndromic

TLL1

Atrial septal defect

ZFPM2

46,XY sex reversal

ZIC3

Congenital heart defects, nonsyndromic, Heterotaxy, visceral, VACTERL association

Panel de Aorta

ABCC6
Pseudoxanthoma elasticum
ACTA2
Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome
ADAMTS2
Ehlers-Danlos syndrome
CBS
Homocystinuria due to cystathionine beta-synthase deficiency
COL1A1
Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL1A2
Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL2A1
Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1
COL3A1
Ehlers-Danlos syndrome
COL5A1
Ehlers-Danlos syndrome
COL5A2
Ehlers-Danlos syndrome
COL9A1
Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type
COL9A2
Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome
COL11A1
Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2
COL18A1
Knobloch syndrome
EFEMP2
Cutis laxa
ELN
Cutis laxa, Supravalvular aortic stenosis
ENPP1
Arterial calcification, Hypophosphatemic rickets
FBLN5
Cutis laxa, Macular degeneration, age-related
FBN1
Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome
FBN2
Congenital contractural arachnodactyly (Beals syndrome)
FKBP14
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
FLNA
Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
GATA5
Familial atrial fibrillation, Single ventricular septal defect, Tetralogy of Fallot
MFAP5
Aortic aneurysm, familial thoracic
MYH11
Aortic aneurysm, familial thoracic
NOTCH1
Aortic valve disease
PLOD1
Ehlers-Danlos syndrome
SKI
Shprintzen-Goldberg syndrome
SLC2A10
Arterial tortuosity syndrome
SLC39A13
Spondylodysplastic Ehlers-Danlos syndrome
SMAD3
Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome
TGFB2
Loeys-Dietz syndrome
TGFB3
Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)
TGFBR1
Loeys-Dietz syndrome
TGFBR2
Loeys-Dietz syndrome
TNXB
Ehlers-Danlos syndrome
ZNF469
Brittle cornea syndrome

Panel de Arritmia

ABCB4

Cholestasis, Gallbladder disease, Low phospholipid-associated cholelithiasis

AKAP9

Long QT syndrome

ANK2

Cardiac arrhythmia, Long QT syndrome

CACNA1C

Brugada syndrome, Timothy syndrome

CACNA2D4

Retinal cone dystrophy

CACNB2

Brugada syndrome

CALM1

Long QT syndrome, Recurrent cardiac arrest, infantile, Ventricular tachycardia, catecholaminergic polymorphic

CALM2

Long QT syndrome

CALM3

Catecholaminergic polymorphic ventricular tachycardia

CASQ2

Ventricular tachycardia, catecholaminergic, polymorphic

CAV3

Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome

CTNNA3

Arrhythmogenic right ventricular dysplasia

DBH

Dopamine beta-hydroxylase deficiency

DES

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

DSC2

Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair

DSG2

Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)

DSP

Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

GATA6

Heart defects, congenital, and other congenital anomalies

GJA5

Atrial fibrillation, Atrial standstill, digenic, Progressive familial heart block

HCN4

Brugada syndrome, Sick sinus syndrome

JUP

Arrhythmogenic right ventricular dysplasia, Naxos disease

KCNA5

Atrial fibrillation

KCND3

Brugada syndrome

KCNE1

Jervell and Lange-Nielsen syndrome, Long QT syndrome

KCNE2

Atrial fibrillation, familial, Long QT syndrome

KCNE3

Brugada syndrome

KCNH2

Long QT syndrome, Short QT syndrome

KCNJ2

Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome

KCNJ5

Hyperaldosteronism, familial, Long QT syndrome

KCNQ1

Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome

LDB3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

LMNA

Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type

MYH6

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

NKX2-5

Atrial septal defect, Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,

NOS1AP

Romano-Ward syndrome

PKP2

Arrhythmogenic right ventricular dysplasia

PLN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

RYR2

Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic

SCN1B

Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus

SCN3B

Atrial fibrillation, familial, Brugada syndrome

SCN5A

Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation

SCN10A

Brugada syndrome, Channelopathy-associated congenital insensitivity to pain, Paroxysmal extreme pain disorder, Primary erythermalgia, Sodium channelopathy-related small fiber neuropathy

TBX5

Holt-Oram syndrome

TGFB3

Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)

TMEM43

Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy

TNNI3

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TNNT2

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

TRDN

Ventricular tachycardia, catecholaminergic polymorphic

TRPM4

Progressive familial heart block

TTN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

Panel de Corazón

 

Panel de Fibrilación Atrial

ABCB4

Cholestasis, Gallbladder disease, Low phospholipid-associated cholelithiasis

CACNA2D4

Retinal cone dystrophy

CACNB2

Brugada syndrome

GATA6

Heart defects, congenital, and other congenital anomalies

GJA5

Atrial fibrillation, Atrial standstill, digenic, Progressive familial heart block

HCN4

Brugada syndrome, Sick sinus syndrome

KCNA5

Atrial fibrillation

KCND3

Brugada syndrome

KCNE1

Jervell and Lange-Nielsen syndrome, Long QT syndrome

KCNE2

Atrial fibrillation, familial, Long QT syndrome

KCNH2

Long QT syndrome, Short QT syndrome

KCNJ2

Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome

KCNJ5

Hyperaldosteronism, familial, Long QT syndrome

KCNQ1

Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome

LDB3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

LMNA

Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type

RYR2

Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic

SCN1B

Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus

SCN3B

Atrial fibrillation, familial, Brugada syndrome

SCN5A

Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation

SCN10A

Brugada syndrome, Channelopathy-associated congenital insensitivity to pain, Paroxysmal extreme pain disorder, Primary erythermalgia, Sodium channelopathy-related small fiber neuropathy

TBX5

Holt-Oram syndrome

Panel de Hiperlipidemia

ABCA1

ABCA1 deficiency, HDL deficiency, Tangier disease

ABCG5

Sitosterolemia

ABCG8

Sitosterolemia

APOA1

Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia

APOB

Hypercholesterolemia, Hypobetalipoproteinemia

APOC3

Apolipoprotein C-III deficiency

APOE

Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy, Sea-blue histiocyte disease

LDLR

Hypercholesterolemia

LDLRAP1

Hypercholesterolemia

LPL

Combined hyperlipidemia, familial, Hyperlipoproteinemia, Lipoprotein lipase deficiency

PCSK9

Hypercholesterolemia

Panel de Hipertensión Arterial Pulmonar

ACVRL1

Hereditary hemorrhagic telangiectasia

BMPR2

Pulmonary hypertension, primary, Pulmonary venoocclusive disease

CAV1

Lipodystrophy, congenital generalized, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

EIF2AK4

Pulmonary venoocclusive disease

ENG

Hereditary hemorrhagic telangiectasia, Juvenile polyposis syndrome

FOXF1

Alveolar capillary dysplasia with misalignment of pulmonary veins

KCNA5

Atrial fibrillation

KCNK3

Pulmonary artery hypertension

RASA1

Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies

SMAD4

Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal

TBX4

 

Panel de Miocardiopatía

A2ML1

Noonan syndrome

AARS2

Leukoencephalopathy, progressive, with ovarian failure

ABCC9

Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)

ACAD9

Acyl-CoA dehydrogenase family, deficiency

ACADVL

Acyl-CoA dehydrogenase, very long chain, deficiency

ACTA1

Myopathy

ACTC1

Atrial septal defect, Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

ACTN2

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

AGK

Sengers syndrome

AGL

Glycogen storage disease

ALPK3

Pediatric cardiomyopathy

ANKRD1

Familial dilated cardiomyopathy

ANO5

Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies

APOA1

Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia

BAG3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

BRAF

Cardiofaciocutaneous syndrome, LEOPARD syndrome, Noonan syndrome

CAPN3

Eosinophilic myositis, Muscular dystrophy, limb-girdle

CASQ2

Ventricular tachycardia, catecholaminergic, polymorphic

CAV3

Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome

CBL

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

CHKB

Muscular dystrophy, congenital, megaconial

COX15

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Leigh syndrome

CPT1A

Carnitine palmitoyltransferase deficiency

CPT2

Carnitine palmitoyltransferase II deficiency

CRYAB

Cataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

CSRP3

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

CTNNA3

Arrhythmogenic right ventricular dysplasia

DAG1

Muscular dystrophy-dystroglycanopathy

DBH

Dopamine beta-hydroxylase deficiency

DES

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

DMD

Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy

DNAJC19

3-methylglutaconic aciduria

DSC2

Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair

DSG2

Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)

DSP

Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

DYSF

Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset

EMD

Emery-Dreifuss muscular dystrophy

ETFA

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFB

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFDH

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

EYA4

Dilated cardiomyopathy (DCM)

FBXO32

Dilated cardiomyopathy (DCM)

FHL1

Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy

FKRP

Muscular dystrophy-dystroglycanopathy

FKTN

Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle)

FLNC

Myopathy

FOXRED1

Leigh syndrome, Mitochondrial complex I deficiency

FXN

Friedreich ataxia

GAA

Glycogen storage disease

GATAD1

Dilated cardiomyopathy (DCM)

GBE1

Glycogen storage disease

GFM1

Combined oxidative phosphorylation deficiency

GLA

Fabry disease

GLB1

GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)

GMPPB

Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)

GNE

Inclusion body myopathy, Nonaka myopathy, Sialuria

GUSB

Mucopolysaccharidosis

HCN4

Brugada syndrome, Sick sinus syndrome

HFE

Hemochromatosis

HRAS

Congenital myopathy with excess of muscle spindles, Costello syndrome

ISPD

Muscular dystrophy-dystroglycanopathy

JPH2

Hypertrophic cardiomyopathy (HCM)

JUP

Arrhythmogenic right ventricular dysplasia, Naxos disease

KRAS

Cardiofaciocutaneous syndrome, Noonan syndrome

LAMA2

Muscular dystrophy, congenital merosin-deficient, Schizophrenia

LAMP2

Danon disease

LARGE

Muscular dystrophy-dystroglycanopathy

LDB3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

LMNA

Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type

LZTR1

Noonan syndrome, Schwannomatosis

MAP2K1

Cardiofaciocutaneous syndrome

MAP2K2

Cardiofaciocutaneous syndrome

MTO1

Combined oxidative phosphorylation deficiency

MYBPC3

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

MYH6

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

MYH7

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage

MYL2

Hypertrophic cardiomyopathy (HCM)

MYL3

Hypertrophic cardiomyopathy (HCM)

MYOT

Myopathy, myofibrillar

MYPN

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

NEXN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

NF1

Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome

NRAS

Noonan syndrome

NSUN2

Dubowitz syndrome, Non-syndromic intellectual disability

PKP2

Arrhythmogenic right ventricular dysplasia

PLEC

Epidermolysis bullosa, Muscular dystrophy, limb-girdle

PLEKHM2

Dilated cardiomyopathy (DCM), left ventricular noncompaction

PLN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

PNPLA2

Neutral lipid storage disease with myopathy

POMGNT1

Muscular dystrophy-dystroglycanopathy

POMT1

Muscular dystrophy-dystroglycanopathy

POMT2

Muscular dystrophy-dystroglycanopathy

PRDM16

Dilated cardiomyopathy (DCM), Left ventricular noncompaction

PRKAG2

Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome

PTPN11

LEOPARD syndrome, Metachondromatosis, Noonan syndrome

RAF1

Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome

RASA2

Noonan syndrome

RBM20

Dilated cardiomyopathy (DCM)

RIT1

Noonan syndrome

RRAS

Noonan-syndrome like phenotype

RYR2

Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic

SCN5A

Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation

SCNN1B

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

SCNN1G

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

SCO2

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia

SDHA

Dilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas

SELENON

Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion

SGCA

Muscular dystrophy, limb-girdle

SGCB

Muscular dystrophy, limb-girdle

SGCD

Dilated cardiomyopathy (DCM), Muscular dystrophy, limb-girdle

SGCG

Muscular dystrophy, limb-girdle

SHOC2

Noonan-like syndrome with loose anagen hair

SLC22A5

Carnitine deficiency, systemic primary

SLC25A4

Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions

SLC25A20

Carnitine-acylcarnitine translocase deficiency

SMCHD1

Facioscapulohumeral muscular dystrophy

SOS1

Noonan syndrome

SPRED1

Legius syndrome

TAZ

3-Methylglutaconic aciduria, (Barth syndrome)

TCAP

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle

TGFB3

Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)

TMEM43

Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy

TMEM70

Mitochondrial complex V (ATP synthase) deficiency

TNNC1

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TNNI3

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TNNT2

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

TPM1

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TRIM32

Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle

TSFM

Combined oxidative phosphorylation deficiency

TTN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TTR

Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia

VCL

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

VCP

Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Inclusion body myopathy with early-onset Paget disease

XK

McLeod syndrome

Panel de Miocardiopatía Arritmogénica del Ventrículo Derecho

CTNNA3

Arrhythmogenic right ventricular dysplasia

DES

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

DSC2

Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair

DSG2

Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)

DSP

Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

JUP

Arrhythmogenic right ventricular dysplasia, Naxos disease

LDB3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

LMNA

Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type

PKP2

Arrhythmogenic right ventricular dysplasia

PLN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

RYR2

Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic

TGFB3

Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)

TMEM43

Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy

TTN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

Panel de Miocardiopatía Dilatada

ABCC9

Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)

BAG3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

DES

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

DMD

Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy

DSC2

Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair

DSG2

Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)

DSP

Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

EMD

Emery-Dreifuss muscular dystrophy

FBXO32

Dilated cardiomyopathy (DCM)

HCN4

Brugada syndrome, Sick sinus syndrome

JUP

Arrhythmogenic right ventricular dysplasia, Naxos disease

LAMP2

Danon disease

LMNA

Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type

MYBPC3

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

MYH6

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

MYH7

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage

PKP2

Arrhythmogenic right ventricular dysplasia

PLEKHM2

Dilated cardiomyopathy (DCM), left ventricular noncompaction

PLN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

RAF1

Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome

RBM20

Dilated cardiomyopathy (DCM)

SCN5A

Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation

TCAP

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle

TNNT2

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

TPM1

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TTN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

VCL

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

Panel de Miocardiopatía Hipertrófica

ACTC1

Atrial septal defect, Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

ACTN2

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

ALPK3

Pediatric cardiomyopathy

CSRP3

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

GAA

Glycogen storage disease

GLA

Fabry disease

JPH2

Hypertrophic cardiomyopathy (HCM)

LAMP2

Danon disease

MYBPC3

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

MYH7

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage

MYL2

Hypertrophic cardiomyopathy (HCM)

MYL3

Hypertrophic cardiomyopathy (HCM)

PRKAG2

Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome

RAF1

Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome

SOS1

Noonan syndrome

TNNI3

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TNNT2

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

TPM1

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TTR

Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia

Panel de Miocardiopatía No Compactada del Ventrículo Izquierdo

ABCC9

Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)

BAG3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

DES

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

DMD

Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy

DSC2

Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair

DSG2

Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)

DSP

Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

EMD

Emery-Dreifuss muscular dystrophy

FBXO32

Dilated cardiomyopathy (DCM)

HCN4

Brugada syndrome, Sick sinus syndrome

JPH2

Hypertrophic cardiomyopathy (HCM)

JUP

Arrhythmogenic right ventricular dysplasia, Naxos disease

LAMP2

Danon disease

LMNA

Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type

MYBPC3

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

MYH6

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

MYH7

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage

PKP2

Arrhythmogenic right ventricular dysplasia

PLEKHM2

Dilated cardiomyopathy (DCM), left ventricular noncompaction

PLN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

RAF1

Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome

RBM20

Dilated cardiomyopathy (DCM)

RYR2

Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic

SCN5A

Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation

TCAP

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle

TNNT2

Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction

TPM1

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

TTN

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

VCL

Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM)

Panel de Síndrome de Brugada

CACNA1C

Brugada syndrome, Timothy syndrome

CACNB2

Brugada syndrome

CAV3

Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome

HCN4

Brugada syndrome, Sick sinus syndrome

KCND3

Brugada syndrome

KCNE3

Brugada syndrome

KCNH2

Long QT syndrome, Short QT syndrome

SCN1B

Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus

SCN3B

Atrial fibrillation, familial, Brugada syndrome

SCN5A

Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation

TRPM4

Progressive familial heart block

Panel de Síndrome de Ehlers-Danlos

ABCC6

Pseudoxanthoma elasticum

ADAMTS2

Ehlers-Danlos syndrome

ALDH18A1

Cutis laxa, Spastic paraplegia

ATP6V0A2

Cutis laxa, Wrinkly skin syndrome

ATP7A

Menkes disease

CBS

Homocystinuria due to cystathionine beta-synthase deficiency

CHST14

Ehlers-Danlos syndrome, musculocontractural

COL1A1

Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4

COL1A2

Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4

COL2A1

Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1

COL3A1

Ehlers-Danlos syndrome

COL5A1

Ehlers-Danlos syndrome

COL5A2

Ehlers-Danlos syndrome

COL9A1

Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type

COL9A2

Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome

COL11A1

Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2

COL18A1

Knobloch syndrome

EFEMP2

Cutis laxa

ELN

Cutis laxa, Supravalvular aortic stenosis

FBLN5

Cutis laxa, Macular degeneration, age-related

FBN1

Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome

FBN2

Congenital contractural arachnodactyly (Beals syndrome)

FKBP14

Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

FLNA

Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects

PLOD1

Ehlers-Danlos syndrome

PYCR1

Cutis laxa AR type 2B

SLC39A13

Spondylodysplastic Ehlers-Danlos syndrome

SMAD3

Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome

TGFB2

Loeys-Dietz syndrome

TGFBR1

Loeys-Dietz syndrome

TGFBR2

Loeys-Dietz syndrome

TNXB

Ehlers-Danlos syndrome

ZNF469

Brittle cornea syndrome

Panel de Síndrome de Liddle

SCNN1B

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

SCNN1G

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

Panel de Síndrome de Marfan

ADAMTSL4

Ectopia lentis, isolated

CBS

Homocystinuria due to cystathionine beta-synthase deficiency

COL1A1

Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4

COL1A2

Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4

COL2A1

Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1

COL3A1

Ehlers-Danlos syndrome

COL5A1

Ehlers-Danlos syndrome

COL5A2

Ehlers-Danlos syndrome

COL9A1

Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type

COL9A2

Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome

COL11A1

Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2

COL18A1

Knobloch syndrome

FBN1

Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome

FBN2

Congenital contractural arachnodactyly (Beals syndrome)

MED12

FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome

PLOD1

Ehlers-Danlos syndrome

SKI

Shprintzen-Goldberg syndrome

SLC2A10

Arterial tortuosity syndrome

SMAD3

Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome

TGFB2

Loeys-Dietz syndrome

TGFB3

Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)

TGFBR1

Loeys-Dietz syndrome

TGFBR2

Loeys-Dietz syndrome

UPF3B

Mental retardation, syndromic

VCAN

Wagner disease

Panel de Síndrome de Noonan

A2ML1

Noonan syndrome

BRAF

Cardiofaciocutaneous syndrome, LEOPARD syndrome, Noonan syndrome

CBL

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

HRAS

Congenital myopathy with excess of muscle spindles, Costello syndrome

KRAS

Cardiofaciocutaneous syndrome, Noonan syndrome

LZTR1

Noonan syndrome, Schwannomatosis

MAP2K1

Cardiofaciocutaneous syndrome

MAP2K2

Cardiofaciocutaneous syndrome

NF1

Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome

NRAS

Noonan syndrome

NSUN2

Dubowitz syndrome, Non-syndromic intellectual disability

PTPN11

LEOPARD syndrome, Metachondromatosis, Noonan syndrome

RAF1

Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome

RASA2

Noonan syndrome

RIT1

Noonan syndrome

RRAS

Noonan-syndrome like phenotype

SHOC2

Noonan-like syndrome with loose anagen hair

SOS1

Noonan syndrome

SPRED1

Legius syndrome

Panel de Síndrome de QT Corto

CACNA1C

Brugada syndrome, Timothy syndrome

CACNB2

Brugada syndrome

KCNH2

Long QT syndrome, Short QT syndrome

KCNJ2

Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome

KCNQ1

Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome

Panel de Síndrome de QT Largo

AKAP9

Long QT syndrome

ANK2

Cardiac arrhythmia, Long QT syndrome

CACNA1C

Brugada syndrome, Timothy syndrome

CALM1

Long QT syndrome, Recurrent cardiac arrest, infantile, Ventricular tachycardia, catecholaminergic polymorphic

CALM2

Long QT syndrome

CALM3

Catecholaminergic polymorphic ventricular tachycardia

CAV3

Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome

KCNE1

Jervell and Lange-Nielsen syndrome, Long QT syndrome

KCNE2

Atrial fibrillation, familial, Long QT syndrome

KCNH2

Long QT syndrome, Short QT syndrome

KCNJ2

Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome

KCNJ5

Hyperaldosteronism, familial, Long QT syndrome

KCNQ1

Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome

NOS1AP

Romano-Ward syndrome

SCN5A

Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation

Panel de Taquicardia Ventricular Polimórfica Catecolaminérgica

CALM1

Long QT syndrome, Recurrent cardiac arrest, infantile, Ventricular tachycardia, catecholaminergic polymorphic

CALM2

Long QT syndrome

CALM3

Catecholaminergic polymorphic ventricular tachycardia

CASQ2

Ventricular tachycardia, catecholaminergic, polymorphic

KCNJ2

Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome

RYR2

Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic

TRDN

Ventricular tachycardia, catecholaminergic polymorphic

Panel de Telangiectasia Hemorrágica Hereditaria

ACVRL1

Hereditary hemorrhagic telangiectasia

ENG

Hereditary hemorrhagic telangiectasia, Juvenile polyposis syndrome

RASA1

Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies

SMAD4

Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal

 

Clasificación de Variantes

 

 

EXOMA

 

MICROARRAYS

 

Clasificación de Variantes

Al realizar un diagnóstico genético, la clasificación de variantes es la base a partir de la cual se toman las decisiones médicas. Específicamente, es importante conocer si una variante es patogénica o casi patogénica porque influye en el cuidado y tratamiento adecuados.

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

La variante identificada es considerada una probable causa de la enfermedad. La información debe ser usada con precaución al momento de tomar decisiones médicas dado que existe un grado de incertidumbre.

 

Variante de significado incierto.

La variante podría ser una mutación independiente causante de la enfermedad pero la evidencia existente es insuficiente y contradictoria.

 

Variante casi benigna.

La variante probablemente no sea la causa de la enfermedad estudiada.

 

Variante benigna.

La variante no es considerada la causa de la enfermedad estudiada.

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