Primary immunodeficiencyGene: GAD1
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.
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
This gene appears to have no relationship to immunodeficiency
Created: 19 Oct 2015, 12:49 p.m.
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.
Phenotypes for GAD1 were set to ?Cerebral palsy, spastic quadriplegic, 1, 603513
Phenotypes for GAD1 were set to Immunoglobulin A deficiency, 2
GAD1 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Red, A- or hypo-gammaglobulinaemia v1.25
GAD1 was created by Louise Daugherty