Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DEF6The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:59 a.m. | Last Modified: 8 Mar 2022, 10:59 a.m.
Panel Version: 2.532
Comment on list classification: There are now at least 3 unrelated cases of immunodeficiency associated with different biallelic variants in this gene (PMID:31308374; 32562707). DEF6 is also associated with a relevant phenotype in OMIM (MIM# 619573) and should be promoted to Green at the next GMS panel update (tagged).Created: 15 Nov 2021, 11:15 a.m. | Last Modified: 15 Nov 2021, 11:15 a.m.
Panel Version: 2.488
Additional cases reported in PMID: 32562707Created: 23 Oct 2021, 8:46 a.m. | Last Modified: 23 Oct 2021, 8:46 a.m.
Panel Version: 2.480
Publications
Comment on list classification: Comment on list classification: Promoted from Red to Amber based on expert review. Insufficient individuals for DEF6 to be rated as Green.Created: 28 Apr 2020, 8:29 a.m. | Last Modified: 28 Apr 2020, 8:29 a.m.
Panel Version: 2.131
Three individuals from two unrelated families, some functional data.Created: 10 Apr 2020, 6:15 a.m. | Last Modified: 10 Apr 2020, 6:15 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Systemic autoimmunity
Publications
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
Tag Q4_21_rating was removed from gene: DEF6.
Source Expert Review Green was added to DEF6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: DEF6.
Gene: def6 has been classified as Amber List (Moderate Evidence).
Publications for gene: DEF6 were set to 32086639; 31308374; 32048120
Phenotypes for gene: DEF6 were changed from DEF6 deficiency; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections; Diseases of Immune Dysregulation to Immunodeficiency 87 and autoimmunity, OMIM:619573; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections
Gene: def6 has been classified as Amber List (Moderate Evidence).
Publications for gene DEF6 were updated from 32086639; 32048120 to 32086639; 31308374; 32048120
Publications for gene: DEF6 were set to
Phenotypes for gene: DEF6 were changed from to DEF6 deficiency; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections; Diseases of Immune Dysregulation
Mode of inheritance for gene: DEF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: DEF6 was added gene: DEF6 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: DEF6 was set to