GABRD

gamma-aminobutyric acid type A receptor subunit delta
OMIM: 137163, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green GABRD in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Susceptibility to epilepsy, MIM#613060

Green GABRD 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
  • Intellectual disability
  • Epilepsy
  • Susceptibility to epilepsy, MIM#613060

Green GABRD in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Epilepsy
  • Susceptibility to epilepsy, MIM#613060

Green GABRD 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
  • Literature
Phenotypes
  • Intellectual disability
  • Epilepsy
  • Susceptibility to epilepsy, MIM#613060