A- or hypo-gammaglobulinaemia

Gene: GAD1

Red List (low evidence)

GAD1 (glutamate decarboxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 7 panels

4 reviews

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
  • Expert Review Red
Phenotypes
  • Immunoglobulin A deficiency (2)
OMIM
605363
Clinvar variants
Variants in GAD1
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for GAD1 was changed to BIALLELIC, autosomal or pseudoautosomal

11 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2016, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

GAD1All sources for gene: GAD1 were removed

11 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

GAD1 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen