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Primary immunodeficiency

Gene: GAD1

Red List (low evidence)

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

5 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: removed 'Immunoglobulin A deficiency, 2' from the phenotype, there is no evidence to support this phenotype for this gene or where this assertion came from
Created: 26 Apr 2018, 9:26 a.m.

Tracy Briggs (Manchester Genomic Medicine Centre)

Red List (low evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: No evidence for association with A- or hypo-gammaglobulinaemia
Created: 11 May 2016, 9:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Sophie Hambleton (Newcastle University)

Red List (low evidence)

This gene appears to have no relationship to immunodeficiency
Created: 19 Oct 2015, 12:49 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • Expert Review Red
Phenotypes
  • ?Cerebral palsy, spastic quadriplegic, 1, 603513
OMIM
605363
Clinvar variants
Variants in GAD1
Penetrance
None
Panels with this gene

History Filter Activity

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

26 Apr 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GAD1 were set to ?Cerebral palsy, spastic quadriplegic, 1, 603513

20 Apr 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GAD1 were set to Immunoglobulin A deficiency, 2

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GAD1 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, A- or hypo-gammaglobulinaemia v1.25

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

GAD1 was created by Louise Daugherty