A- or hypo-gammaglobulinaemia
Gene: GAD1EnsemblGeneIds (GRCh38): ENSG00000128683
EnsemblGeneIds (GRCh37): ENSG00000128683
OMIM: 605363, Gene2Phenotype
GAD1 is in 9 panels
4 reviews
Tracy Briggs (Manchester Genomic Medicine Centre)
Peter Arkwright (Royal Manchester Foundation Trust)
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: No evidence for association with A- or hypo-gammaglobulinaemiaCreated: 11 May 2016, 9:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sophie Hambleton (Newcastle University)
This gene appears to have no relationship to immunodeficiencyCreated: 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
-
- Intellectual disability
- Hereditary spastic paraplegia
- Early onset or syndromic epilepsy
- COVID-19 research
- Adult onset neurodegenerative disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Adult onset hereditary spastic paraplegia
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GAD1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
clearsources
Sarah Leigh (Genomics England Curator)GAD1All sources for gene: GAD1 were removed
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()GAD1 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen