GABRA3

gamma-aminobutyric acid type A receptor subunit alpha3
OMIM: 305660, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green GABRA3 in Mendeliome


Version 2.0

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091

Green GABRA3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091

Green GABRA3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091