GAD1

glutamate decarboxylase 1
OMIM: 605363
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cerebral palsy, spastic quadriplegic, 1 603513, Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cerebral palsy, spastic quadriplegic, 1 603513, Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele