GAD1

glutamate decarboxylase 1
OMIM: 605363, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GAD1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.17

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 89, MIM# 619124

    Red GAD1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebral palsy, spastic quadriplegic, 1, MIM#603513

    Green GAD1 in Mendeliome


    Version 1.4540

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Developmental and epileptic encephalopathy 89, MIM# 619124

    Green GAD1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.384

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 89, MIM# 619124

    Green GAD1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.699

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy 89, MIM# 619124

    Red GAD1 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.148

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebralpalsy, spasticquadriplegic,1, 603513

    Green GAD1 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.139

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Developmental and epileptic encephalopathy 89, MIM# 619124