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Severe Paediatric Disorders

Gene: GAD1

Amber List (moderate evidence)

GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GAD1; Recommended initial gene rating: I don't know; Phenotypes: ?Cerebral palsy, spastic quadriplegic, 1, 603513 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Cerebral palsy, spastic quadriplegic, 1, 603513
OMIM
605363
Clinvar variants
Variants in GAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GAD1 were updated from to 30847515

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1

20 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1

19 Feb 2020, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1

19 Feb 2020, Gel status: 2

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GAD1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1

14 Feb 2020, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to GAD1.

14 Feb 2020, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to GAD1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GAD1 was added gene: GAD1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: GAD1 was set to