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STRs in panel
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COVID-19 research

Gene: DEF6

Green List (high evidence)

DEF6 (DEF6, guanine nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000023892
EnsemblGeneIds (GRCh37): ENSG00000023892
OMIM: 610094, Gene2Phenotype
DEF6 is in 2 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immune dysregulation; combined immunodeficiency; autoimmunity; autoimmune enteropathy; dilated cardiomyopathy

Louise Daugherty (Genomics England Curator)

I don't know

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • DEF6 deficiency
  • Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections
  • Diseases of Immune Dysregulation
OMIM
610094
Clinvar variants
Variants in DEF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to DEF6. Added phenotypes DEF6 deficiency; Diseases of Immune Dysregulation; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections for gene: DEF6 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DEF6 was added gene: DEF6 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEF6 were set to 32086639; 31308374; 32048120 Phenotypes for gene: DEF6 were set to DEF6 deficiency; Diseases of Immune Dysregulation; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections