Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DEF6

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

5 reviews

Arina Puzriakova (Genomics England Curator)

The 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

Created: 15 Nov 2021, 11:15 a.m.
Last Modified: 15 Nov 2021, 11:15 a.m.
Panel version: 2.532

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Additional cases reported in PMID: 32562707
Created: 23 Oct 2021, 8:46 a.m. | Last Modified: 23 Oct 2021, 8:46 a.m.

Panel Version: 2.480

Publications

PMID: 32562707

Created: 23 Oct 2021, 8:46 a.m.
Last Modified: 23 Oct 2021, 8:46 a.m.
Panel version: 2.480

Catherine Snow (Genomics England)

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

Created: 28 Apr 2020, 8:29 a.m.
Last Modified: 28 Apr 2020, 8:29 a.m.
Panel version: 2.131

Zornitza Stark (Australian Genomics)

I don't know

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

31308374

Created: 10 Apr 2020, 6:15 a.m.
Last Modified: 10 Apr 2020, 6:15 a.m.
Panel version: 2.51

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

31308374

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: 2.36

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
IUIS Classification December 2019

Phenotypes

Immunodeficiency 87 and autoimmunity, OMIM:619573
Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections

OMIM

610094

Clinvar variants

Variants in DEF6

Penetrance

None

Publications

Panels with this gene