Neumología

PANELES:

Panel Completo de Neumología
ABCA3Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary
CCDC39Ciliary dyskinesia
CCDC40Ciliary dyskinesia
CFTRCystic fibrosis
CHATMyasthenic syndrome, congenital
CHRNA1Myasthenic syndrome, congenital
CHRNB1Myasthenic syndrome
CHRNDMyasthenic syndrome
CHRNEMyasthenic syndrome
COLQMyasthenic syndrome, congenital
CSF2RASurfactant metabolism dysfunction, pulmonary
DKC1Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome
DNAAF1Ciliary dyskinesia
DNAAF2Ciliary dyskinesia
DNAH5Ciliary dyskinesia
DNAH11Ciliary dyskinesia
DNAI1Ciliary dyskinesia
DNAI2Ciliary dyskinesia
DNAL1Ciliary dyskinesia
EDN3Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome
EFEMP2Cutis laxa
ELMOD2Familial idiopathic pulmonary fibrosis
ELNCutis laxa, Supravalvular aortic stenosis
FBLN5Cutis laxa, Macular degeneration, age-related
FLCNBirt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous
FOXF1Alveolar capillary dysplasia with misalignment of pulmonary veins
GLRA1Hyperekplexia
HPS1Hermansky-Pudlak syndrome
HPS4Hermansky-Pudlak syndrome
ITGA3Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
LTBP4Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MECP2Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome
NF1Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome
NKX2-1Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Thyroid cancer, nonmedullary
NME8Ciliary dyskinesia
PARNDyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure
PHOX2BCentral hypoventilation syndrome, congenital, Neuroblastoma with Hirschsprung disease, Neuroblastoma, susceptiblity to
RAPSNMyasthenic syndrome, congenital
RETCentral hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma
RSPH4ACiliary dyskinesia
RSPH9Ciliary dyskinesia
RTEL1Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure
SCN4AHyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita
SCNN1ABronchiectasis with or without elevated sweat chloride, Pseudohypoaldosteronism
SCNN1BBronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism
SERPINA1Alpha-1-antitrypsin deficiency
SFTPA1Idiopathic pulmonary fibrosis
SFTPA2Pulmonary fibrosis, idiopathic
SFTPBSurfactant metabolism dysfunction, pulmonary
SFTPCSurfactant metabolism dysfunction, pulmonary
SLC6A5Hyperekplexia
SLC7A7Lysinuric protein intolerance
SLC34A2Pulmonary alveolar microlithiasis
SMPD1Niemann-Pick disease
STAT3Autoimmune disease, multisystem, infantile onset, Hyper-IgE recurrent infection syndrome
TERCAplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related
TERTAplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related
TINF2Dyskeratosis congenita, Revesz syndrome
TSC1Lymphangioleiomyomatosis, Tuberous sclerosis
TSC2Lymphangioleiomyomatosis, Tuberous sclerosis
ZEB2Mowat-Wilson syndrome
Panel de Bronquiectasia

CCDC39

Ciliary dyskinesia

CCDC40

Ciliary dyskinesia

CFTR

Cystic fibrosis

DNAAF1

Ciliary dyskinesia

DNAAF2

Ciliary dyskinesia

DNAH5

Ciliary dyskinesia

DNAH11

Ciliary dyskinesia

DNAI1

Ciliary dyskinesia

DNAI2

Ciliary dyskinesia

DNAL1

Ciliary dyskinesia

NME8

Ciliary dyskinesia

RSPH4A

Ciliary dyskinesia

RSPH9

Ciliary dyskinesia

SCNN1A

Bronchiectasis with or without elevated sweat chloride, Pseudohypoaldosteronism

SCNN1B

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

Panel de Disquinesia Ciliar Primaria

ARMC4

Ciliary dyskinesia

C21ORF59

Ciliary dyskinesia

CCDC39

Ciliary dyskinesia

CCDC40

Ciliary dyskinesia

CCDC65

Ciliary dyskinesia

CCDC103

Ciliary dyskinesia

CCDC114

Ciliary dyskinesia

CCNO

Ciliary dyskinesia

CENPF

Ciliary dyskinesia -Lethal Ciliopathy

CFTR

Cystic fibrosis

DNAAF1

Ciliary dyskinesia

DNAAF2

Ciliary dyskinesia

DNAAF3

Primary ciliary dyskinesia

DNAAF5

Ciliary dyskinesia

DNAH5

Ciliary dyskinesia

DNAH11

Ciliary dyskinesia

DNAI1

Ciliary dyskinesia

DNAI2

Ciliary dyskinesia

DNAL1

Ciliary dyskinesia

DRC1

Primary ciliary dyskinesia

DYX1C1

Ciliary dyskinesia

HYDIN

Primary ciliary dyskinesia

INVS

Nephronophthisis

LRRC6

Ciliary dyskinesia

NME8

Ciliary dyskinesia

OFD1

Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome

RPGR

Retinitis pigmentosa

RSPH1

Ciliary dyskinesia

RSPH4A

Ciliary dyskinesia

RSPH9

Ciliary dyskinesia

SPAG1

Primary ciliary dyskinesia

ZMYND10

Ciliary dyskinesia

Panel de Enfermedad Pulmonar Intersticial

ABCA3

Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary

CSF2RA

Surfactant metabolism dysfunction, pulmonary

DKC1

Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

ELMOD2

Familial idiopathic pulmonary fibrosis

HPS1

Hermansky-Pudlak syndrome

HPS4

Hermansky-Pudlak syndrome

ITGA3

Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa

NF1

Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome

NKX2-1

Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Thyroid cancer, nonmedullary

PARN

Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure

RTEL1

Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure

SFTPA1

Idiopathic pulmonary fibrosis

SFTPA2

Pulmonary fibrosis, idiopathic

SFTPB

Surfactant metabolism dysfunction, pulmonary

SFTPC

Surfactant metabolism dysfunction, pulmonary

SLC7A7

Lysinuric protein intolerance

SLC34A2

Pulmonary alveolar microlithiasis

SMPD1

Niemann-Pick disease

STAT3

Autoimmune disease, multisystem, infantile onset, Hyper-IgE recurrent infection syndrome

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

TSC1

Lymphangioleiomyomatosis, Tuberous sclerosis

TSC2

Lymphangioleiomyomatosis, Tuberous sclerosis

Panel de Enfermedades Quísticas del Pulmón

EFEMP2

Cutis laxa

ELN

Cutis laxa, Supravalvular aortic stenosis

FBLN5

Cutis laxa, Macular degeneration, age-related

FLCN

Birt-Hogg-Dube syndrome, Pneumothorax, primary spontaneous

LTBP4

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

SERPINA1

Alpha-1-antitrypsin deficiency

TSC1

Lymphangioleiomyomatosis, Tuberous sclerosis

TSC2

Lymphangioleiomyomatosis, Tuberous sclerosis

Panel de Fibrosis Quística

CFTR

Cystic fibrosis

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 Síndrome de Dificultad Respiratoria Neonatal – Disfunción del Surfactante Pulmonar

ABCA3

Interstitial lung disease, Surfactant metabolism dysfunction, pulmonary

FOXF1

Alveolar capillary dysplasia with misalignment of pulmonary veins

NKX2-1

Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Thyroid cancer, nonmedullary

SFTPB

Surfactant metabolism dysfunction, pulmonary

SFTPC

Surfactant metabolism dysfunction, pulmonary

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 Hipoventilación Central y Apnea

CHAT

Myasthenic syndrome, congenital

CHRNA1

Myasthenic syndrome, congenital

CHRNB1

Myasthenic syndrome

CHRND

Myasthenic syndrome

CHRNE

Myasthenic syndrome

COLQ

Myasthenic syndrome, congenital

EDN3

Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome

GLRA1

Hyperekplexia

MECP2

Angelman-like syndrome, Autism, Encephalopathy, Mental retardation, Rett syndrome

PHOX2B

Central hypoventilation syndrome, congenital, Neuroblastoma with Hirschsprung disease, Neuroblastoma, susceptiblity to

RAPSN

Myasthenic syndrome, congenital

RET

Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma

SCN4A

Hyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita

SLC6A5

Hyperekplexia

ZEB2

Mowat-Wilson syndrome

 

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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