Gastroenterología

PANELES:

Panel de Atresia Gastrointestinal
CHD7CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency
FANCBFanconi anemia
FANCCFanconi anemia
GLI3Acrocallosal syndrome, Grieg cephalopolysndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4
MID1Opitz GBBB syndrome
SOX2Microphthalmia, syndromic
TTC7AGastrointestinal defects and immunodeficiency syndrome
Panel de Colestasis

ABCB4

Cholestasis, Gallbladder disease, Low phospholipid-associated cholelithiasis

ABCB11

Cholestasis

ABCC2

Dubin-Johnson syndrome

ATP8B1

Cholestasis, progressive familial intrahepatic, Familial intrahepatic cholestasis, recurrent, Intrahepatic cholestasis of pregnancy

CFTR

Cystic fibrosis

CYP7B1

Bile acid synthesis defect

DGUOK

Mitochondrial DNA depletion syndrome

EPCAM

Colorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital

FAH

Tyrosinemia

JAG1

Alagille syndrome

LCT

Lactase deficiency

MKS1

Bardet-Biedl syndrome, Meckel syndrome

MYO5B

Diarrhea, with microvillus atrophy

NEUROG3

Diarrhea, malabsorptive, congenital

NOTCH2

Alagille syndrome, Hajdu-Cheney syndrome

NPC1

Niemann-Pick disease

NPC2

Niemann-pick disease

NPHP1

Joubert syndrome, Nephronophthisis, Senior-Loken syndrome

NPHP3

Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia

NPHP4

Nephronophthisis, Senior-Loken syndrome

SERPINA1

Alpha-1-antitrypsin deficiency

SLC25A13

Citrin deficiency

SLC26A3

Diarrhea, secretory chloride, congenital

SMPD1

Niemann-Pick disease

SPINT2

Diarrhea, secretory sodium, congenital

TJP2

Cholestasis, progressive familial intrahepatic, Hypercholanemia, familial

TMEM216

Joubert syndrome, Meckel syndrome

TRMU

Liver failure, infantile, Reversible infantile respiratory chain deficiency

TTC37

Trichohepatoenteric syndrome

UGT1A1

Crigler-Najjar syndrome, Gilbert syndrome

VPS33B

Arthrogryposis - renal dysfunction - cholestasis

Panel de Diarrea Congénita

DGAT1

Diarrhea

EPCAM

Colorectal cancer, hereditary nonpolyposis, Diarrhea 5, with tufting enteropathy, congenital

GUCY2C

Diarrhea, Meconium ileus

LCT

Lactase deficiency

MYO5B

Diarrhea, with microvillus atrophy

NEUROG3

Diarrhea, malabsorptive, congenital

SLC26A3

Diarrhea, secretory chloride, congenital

SPINT2

Diarrhea, secretory sodium, congenital

TTC37

Trichohepatoenteric syndrome

Panel de Enfermedad Poliquística Hepática

LRP5

Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease

PKD1

Polycystic kidney disease

PKD2

Polycystic kidney disease

PRKCSH

Polycystic liver disease

SEC63

Polycystic liver disease

Panel de Enfermedad de Hirschsprung

EDN3

Central hypoventilation syndrome, congenital, Hirschsprung disease, Waardenburg syndrome

EDNRB

ABCD syndrome, Hirschsprung disease, Waardenburg syndrome

KIF1BP

Goldberg-Shprintzen megacolon syndrome

MITF

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

NRG1

Nonsyndromic Hirschsprung disease

PAX3

Craniofacial-deafness-hand syndrome, Waardenburg syndrome

RET

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

SOX10

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

ZEB2

Mowat-Wilson syndrome

Panel de Fibrosis Hepática Congénita

AHI1

Joubert syndrome

ARL6

Bardet-Biedl syndrome, Retinitis pigmentosa

ARL13B

Joubert syndrome

BBS1

Bardet-Biedl syndrome

BBS2

Bardet-Biedl syndrome, Retinitis pigmentosa

BBS4

Bardet-Biedl syndrome

BBS5

Bardet-Biedl syndrome

BBS7

Bardet-Biedl syndrome

BBS9

Bardet-Biedl syndrome

BBS10

Bardet-Biedl syndrome

BBS12

Bardet-Biedl syndrome

CC2D2A

COACH syndrome, Joubert syndrome, Meckel syndrome

CEP290

Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome

INVS

Nephronophthisis

IQCB1

Senior-Loken syndrome

MKKS

Bardet-Biedl syndrome, McKusick-Kaufman syndrome

MKS1

Bardet-Biedl syndrome, Meckel syndrome

NPHP1

Joubert syndrome, Nephronophthisis, Senior-Loken syndrome

NPHP3

Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia

NPHP4

Nephronophthisis, Senior-Loken syndrome

OFD1

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

PKD2

Polycystic kidney disease

PKHD1

Polycystic kidney disease

RPGRIP1L

COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier

TMEM67

COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis

TRIM32

Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle

TTC8

Bardet-Biedl syndrome, Retinitis pigmentosa

TTC21B

Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia

WDR35

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

Panel de Pancreatitis

CFTR

Cystic fibrosis

CPA1

Hereditary chronic pancreatitis

CTRC

Hereditary chronic pancreatitis, Tropical pancreatitis

PRSS1

Pancreatitis, hereditary

SPINK1

Pancreatitis, hereditary

 

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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