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 1.142

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 or monogenic inflammatory bowel disease


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

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 1.311

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebralpalsy,spasticquadriplegic,1,603513
Amber GAD1 in Childhood onset hereditary spastic paraplegia


Version 4.43
Latest signed off version: v4.0 (22 Mar 2023)

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 Adult onset hereditary spastic paraplegia


Version 3.21
Latest signed off version: v3.14 (31 Jul 2023)

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 Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

review Unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Red
Phenotypes
  • Cerebralpalsy,spasticquadriplegic,1,603513
Red GAD1 in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

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 Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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 1.184

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