GABRG2

gamma-aminobutyric acid type A receptor subunit gamma2
OMIM: 137164, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GABRG2 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 74 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3 607681

Green GABRG2 in Neurotransmitter Defects


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 74 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3 607681

Green GABRG2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Epileptic encephalopathy, early infantile, 74 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3 607681

Green GABRG2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Epileptic encephalopathy, early infantile, 74 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3 607681

Amber GABRG2 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category C gene
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681
  • Epileptic encephalopathy, early infantile, 74 MIM# 618396
  • Febrile seizures, familial, 8 MIM# 607681

Red GABRG2 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Epileptic encephalopathy, early infantile, 74 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3, 607681

Red GABRG2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Epileptic encephalopathy, early infantile, 74 MIM# 618396
  • Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681
  • Febrile seizures, familial, 8 MIM# 607681