GAD1

glutamate decarboxylase 1
OMIM: 605363, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red GAD1 in COVID-19 research


Level 2: Viral research
Version 1.130

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • A- or hypo-gammaglobulinaemia v1.25
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • ?Cerebral palsy, spastic quadriplegic, 1, 603513

Red GAD1 in Primary immunodeficiency


Version 2.573
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • Expert Review Red
Phenotypes
  • ?Cerebral palsy, spastic quadriplegic, 1, 603513

Red GAD1 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.295

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebralpalsy,spasticquadriplegic,1,603513

Amber GAD1 in Hereditary spastic paraplegia - childhood onset


Version 2.145
Latest signed off version: v2.18 (8 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Yorkshire and North East GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebralpalsy, spasticquadriplegic, 1, 603513

Amber GAD1 in Hereditary spastic paraplegia - adult onset


Version 1.102
Latest signed off version: v1.27 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Cerebralpalsy, spasticquadriplegic,1, 603513

Red GAD1 in Neurodegenerative disorders - adult onset


Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

review Unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Phenotypes
  • Cerebralpalsy,spasticquadriplegic,1,603513

Red GAD1 in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513

    Green GAD1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.572
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • ?Cerebral palsy, spastic quadriplegic, 1 603513
    • Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele

    Green GAD1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Cerebral palsy, spastic quadriplegic, 1 603513
    • Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele

    Amber GAD1 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Cerebral palsy, spastic quadriplegic, 1, 603513