Dermatología

PANELES:

Panel de Acrodermatitis Enteropática Hereditaria
SLC39A4Acrodermatitis enteropathica
Panel de Albinismo

AP3B1

Hermansky-Pudlak syndrome

BLOC1S3

Hermansky-Pudlak syndrome

BLOC1S6

Hermansky-Pudlak syndrome

DTNBP1

Hermansky-Pudlak syndrome

GPR143

Nystagmus, congenital, Ocular albinism

HPS1

Hermansky-Pudlak syndrome

HPS3

Hermansky-Pudlak syndrome

HPS4

Hermansky-Pudlak syndrome

HPS5

Hermansky-Pudlak syndrome

HPS6

Hermansky-Pudlak syndrome

LYST

Chediak-Higashi syndrome

MC1R

Increased analgesia from kappa-opioid receptor agonist

MITF

Melanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome

MYO5A

Griscelli syndrome

OCA2

Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentation

RAB27A

Elejalde syndrome, Griscelli syndrome

SLC45A2

Oculocutaneous albinism, Skin/hair/eye pigmentation

TYR

Albinism, oculocutaneous

TYRP1

Albinism, oculocutaneous

Panel de Cutis Laxa

ALDH18A1

Cutis laxa, Spastic paraplegia

ATP4A

 

ATP6V0A2

Cutis laxa, Wrinkly skin syndrome

EFEMP2

Cutis laxa

ELN

Cutis laxa, Supravalvular aortic stenosis

FBLN5

Cutis laxa, Macular degeneration, age-related

PYCR1

Cutis laxa AR type 2B

SLC2A10

Arterial tortuosity syndrome

Panel de Displasia Ectodérmica

ABCC9

Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM)

BCS1L

Bjornstad syndrome

DSP

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

EDA

Ectodermal dysplasia, hypohidrotic, Tooth agenesis, selective

EDAR

Ectodermal dysplasia, anhidrotic, Hair morphology

ERCC2

Trichothiodystrophy, photosensitive, Xeroderma pigmentosum

EVC

Ellis-van Creveld syndrome, Weyers acrofacial dysostosis

EVC2

Ellis-van Creveld syndrome, Weyers acrodental dysostosis

GJB2

Bart-Pumphrey syndrome, Deafness, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome

GJB6

Deafness

IFT122

Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome

IKBKG

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Immunodeficiency, Incontinentia pigmenti, Invasive pneumococcal disease, recurrent, isolated, Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID)

JUP

Arrhythmogenic right ventricular dysplasia, Naxos disease

PORCN

Focal dermal hypoplasia

RMRP

Anauxetic dysplasia, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis

SHOC2

Noonan-like syndrome with loose anagen hair

TP63

ADULT syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Limb-mammary syndrome, Orofacial cleft, Rapp-Hodgkin syndrome, Split-hand/foot malformation

WDR35

Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5

WNT10A

Odontoonychodermal dysplasia, Schopf-Schulz-Passarge syndrome, Tooth agenesis, selective

Panel de Disqueratosis Congénita

AK2

Reticular dysgenesis

CTC1

Cerebroretinal microangiopathy with calcifications and cysts

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

NHP2

Dyskeratosis congenita

NOP10

Dyskeratosis congenita

RTEL1

Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure

TERC

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TERT

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TINF2

Dyskeratosis congenita, Revesz syndrome

USB1

Poikiloderma with neutropenia

WRAP53

Dyskeratosis congenita

Panel de Epidermólisis Ampollosa

ATP2C1

Benign chronic pemphigus

CDSN

Hypotrichosis, Peeling skin syndrome

COL7A1

Epidermolysis bullosa dystrophica, Epidermolysis bullosa pruriginosa, Epidermolysis bullosa, pretibial, Nail disorder, nonsyndromic congenital, Transient bullous dermolysis of the newborn

COL17A1

Epidermolysis bullosa, junctional, non-Herlitz, Epithelial recurrent erosion dystrophy (ERED)

DSG1

Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)

DSG2

Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM)

DSG4

Hypotrichosis

DSP

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

DST

Neuropathy, hereditary sensory and autonomic

EXPH5

Epidermolysis bullosa

FERMT1

Kindler syndrome

GRIP1

Fraser syndrome

ITGA3

Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa

ITGA6

Epidermolysis bullosa, junctional, with pyloric stenosis

ITGB4

Epidermolysis bullosa simplex, Weber-Cockayne, Epidermolysis bullosa, junctional, non-Herlitz, Epidermolysis bullosa, junctional, with pyloric atresia

KRT1

Epidermolytic hyperkeratosis, Ichthyosis histrix, Curth-Macklin, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Keratosis palmoplantaris striata, Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma, nonepidermolytic

KRT5

Dowling-Degos disease, Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex, Dowling-Meara, Epidermolysis bullosa simplex, Koebner, Epidermolysis bullosa simplex, Weber-Cockayne

KRT14

Dermatopathia pigmentosa reticularis, Epidermolysis bullosa simplex, Epidermolysis bullosa simplex, Dowling-Meara, Epidermolysis bullosa simplex, Koebner, Epidermolysis bullosa simplex, Weber-Cockayne, Naegeli-Franceschetti-Jadassohn syndrome

LAMA3

Epidermolysis bullosa, generalized atrophic benign, Epidermolysis bullosa, junctional, Herlitz, Laryngoonychocutaneous syndrome

LAMB3

Amelogenesis imperfecta, Epidermolysis bullosa, junctional, Herlitz, Epidermolysis bullosa, junctional, non-Herlitz

LAMC2

Epidermolysis bullosa, junctional, Herlitz, Epidermolysis bullosa, junctional, non-Herlitz

MMP1

Severe generalized recessive dystrophic epidermolysis bullosa

PKP1

Ectodermal dysplasia/skin fragility syndrome

PLEC

Epidermolysis bullosa, Muscular dystrophy, limb-girdle

TGM5

Peeling skin syndrome

Panel de Ictiosis

ABCA12

Ichthyosis, harlequin, Ichthyosis, lamellar

ALG8

Congenital disorder of glycosylation

ALOX12B

Ichthyosiform erythroderma, congenital, nonbullous

ALOXE3

Ichthyosiform erythroderma, congenital, nonbullous

CYP4F22

Ichthyosis, congenital

EBP

Chondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND)

ERCC2

Trichothiodystrophy, photosensitive, Xeroderma pigmentosum

FLG

Icthyosis vulgaris

GJA1

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

GJB2

Bart-Pumphrey syndrome, Deafness, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome

GJB3

Deafness

KRT1

Epidermolytic hyperkeratosis, Ichthyosis histrix, Curth-Macklin, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Keratosis palmoplantaris striata, Palmoplantar keratoderma, epidermolytic, Palmoplantar keratoderma, nonepidermolytic

KRT2

Ichthyosis bullosa of Siemens, Ichthyosis exfoliativa

KRT9

Knuckle pads, Palmoplantar keratoderma, epidermolytic

PEX7

Refsum disease, Rhizomelic CDP type 1

PHYH

Refsum disease

STS

Steroid sulfatase deficiency

SUMF1

Multiple sulfatase deficiency

TGM1

Ichthyosis, congenital

Panel de Neurofibromatosis

KIT

Gastrointestinal stromal tumor

NF1

Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome

NF2

Neurofibromatosis, Schwannomatosis

PTPN11

LEOPARD syndrome, Metachondromatosis, Noonan syndrome

RAF1

Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome

SMARCB1

Rhabdoid tumor predisposition syndrome, Schwannomatosis

SPRED1

Legius syndrome

Panel de Paquioniquia Congénita

AAGAB

Keratoderma, palmoplantar, punctate

GJB6

Deafness

KRT6A

Pachyonychia congenita

KRT6B

Pachyonychia congenita

KRT6C

Palmoplantar keratoderma, nonepidermolytic, focal or diffuse

KRT16

Pachyonychia congenita, Palmoplantar keratoderma, nonepidermolytic, focal

KRT17

Pachyonychia congenita, Steatocystoma multiplex

TRPV3

Olmsted syndrome, Palmoplantar keratoderma, nonepidermolytic focal

Panel de Progeria

AGPAT2

Lipodystrophy, congenital generalized

ALDH18A1

Cutis laxa, Spastic paraplegia

B4GALT7

Ehlers-Danlos syndrome, progeroid form

BLM

Bloom syndrome

BSCL2

Encephalopathy, progressive, Lipodystrophy, congenital generalized

COL3A1

Ehlers-Danlos syndrome

ERCC2

Trichothiodystrophy, photosensitive, Xeroderma pigmentosum

ERCC4

Fanconi anemia, Xeroderma pigmentosum

ERCC5

Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome

ERCC6

De Sanctis-Cacchione syndrome, Xeroderma Pigmentosum-Cockayne Syndrome

ERCC8

Cockayne syndrome, UV-sensitive syndrome

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

PYCR1

Cutis laxa AR type 2B

RECQL4

Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome

WRN

Werner syndrome

ZMPSTE24

Mandibuloacral dysplasia with B lipodystrophy, Restrictive dermopathy, lethal

Panel de Síndrome de Adams-Oliver

ARHGAP31

Adams-Oliver syndrome

DLL4

Adams-Oliver syndrome

DOCK6

Adams-Oliver syndrome

EOGT

Adams-Oliver syndrome

NOTCH1

Aortic valve disease

RBPJ

Adams-Oliver syndrome

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 Hermansky-Pudlak

ABCA3

Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary

AP3B1

Hermansky-Pudlak syndrome

BLOC1S3

Hermansky-Pudlak syndrome

BLOC1S6

Hermansky-Pudlak syndrome

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

DTNBP1

Hermansky-Pudlak syndrome

GPR143

Nystagmus, congenital, Ocular albinism

HPS1

Hermansky-Pudlak syndrome

HPS3

Hermansky-Pudlak syndrome

HPS4

Hermansky-Pudlak syndrome

HPS5

Hermansky-Pudlak syndrome

HPS6

Hermansky-Pudlak syndrome

LYST

Chediak-Higashi syndrome

OCA2

Albinism, brown oculocutaneous, Albinism, oculocutaneous, Skin/hair/eye pigmentation

SFTPB

Surfactant metabolism dysfunction, pulmonary

SFTPC

Surfactant metabolism dysfunction, pulmonary

SLC45A2

Oculocutaneous albinism, Skin/hair/eye pigmentation

TERC

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TERT

Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related

TINF2

Dyskeratosis congenita, Revesz syndrome

TYR

Albinism, oculocutaneous

TYRP1

Albinism, oculocutaneous

Panel de Síndrome de Waardenburg

EDN3

Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome

EDNRB

ABCD syndrome, Hirschsprung disease, Waardenburg syndrome

MITF

Melanoma, cutaneous malignant, Renal cell carcinoma with or without malignant melanoma, Tietz albinism-deafness syndrome, Waardenburg syndrome

PAX3

Craniofacial-deafness-hand syndrome, Waardenburg syndrome

SNAI2

Waardenburg syndrome

SOX10

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease

 

Clasificación de Variantes

 

EXOMA.

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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