1. Genes and Genomic Entities
  2. GAD1

GAD1

glutamate decarboxylase 1
OMIM: 605363, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red GAD1 in COVID-19 research


Level 2: Viral research
Version 1.146

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


Level 2: Immunology
Version 8.84
Latest signed off version: v8.0 (30 Apr 2025)

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 1.316

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


Level 2: Neurology
Version 8.37
Latest signed off version: v8.0 (30 Apr 2025)

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


Level 2: Neurology
Version 6.7
Latest signed off version: v6.0 (30 Apr 2025)

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


Level 2: Neurology
Version 8.18
Latest signed off version: v8.0 (30 Apr 2025)

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


Version 6.426
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    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