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Primary immunodeficiency

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

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

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 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

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: DEF6.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to DEF6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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