Disorders of immune dysregulation
Gene: DEF6
Additional family reported with 4 affected siblings.Created: 24 Oct 2021, 9:57 p.m. | Last Modified: 24 Oct 2021, 9:57 p.m.
Panel Version: 0.96
Three individuals from two unrelated families, some functional data.
Sources: LiteratureCreated: 6 Jan 2020, 3:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity
Publications
Phenotypes for gene: DEF6 were changed from Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity
Publications for gene: DEF6 were set to 31308374
Gene: def6 has been classified as Green List (High Evidence).
Gene: def6 has been classified as Amber List (Moderate Evidence).
Gene: def6 has been classified as Amber List (Moderate Evidence).
Gene: def6 has been classified as Amber List (Moderate Evidence).
gene: DEF6 was added gene: DEF6 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEF6 were set to 31308374 Phenotypes for gene: DEF6 were set to Systemic autoimmunity Review for gene: DEF6 was set to AMBER