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Primary immunodeficiency

Gene: DEF6

Amber List (moderate evidence)

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)

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

Dmitrijs Rots (RadboudUMC)

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

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

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

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
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • Immunodeficiency 87 and autoimmunity, OMIM:619573
  • Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections
Tags
Q4_21_rating
OMIM
610094
Clinvar variants
Variants in DEF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: DEF6.

15 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: def6 has been classified as Amber List (Moderate Evidence).

15 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DEF6 were set to 32086639; 31308374; 32048120

15 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

28 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: def6 has been classified as Amber List (Moderate Evidence).

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene DEF6 were updated from 32086639; 32048120 to 32086639; 31308374; 32048120

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DEF6 were set to

28 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DEF6 were changed from to DEF6 deficiency; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections; Diseases of Immune Dysregulation

28 Feb 2020, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: DEF6 was changed from to BIALLELIC, autosomal or pseudoautosomal

28 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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