Primary immunodeficiencyGene: DEF6
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
Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
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