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  3. DEF6
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Disorders of immune dysregulation

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional family reported with 4 affected siblings.
Created: 24 Oct 2021, 9:57 p.m. | Last Modified: 24 Oct 2021, 9:57 p.m.
Panel Version: 0.96
Three individuals from two unrelated families, some functional data.
Sources: Literature
Created: 6 Jan 2020, 3:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity

Publications

Created: 6 Jan 2020, 3:15 a.m.

Panel version: 0.96

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 87 and autoimmunity, MIM# 619573
  • Systemic autoimmunity
OMIM
610094
Clinvar variants
Variants in DEF6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DEF6 were changed from Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity

24 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DEF6 were set to 31308374

24 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: def6 has been classified as Green List (High Evidence).

6 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DEF6 was added gene: DEF6 was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Literature Mode of inheritance for gene: DEF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEF6 were set to 31308374 Phenotypes for gene: DEF6 were set to Systemic autoimmunity Review for gene: DEF6 was set to AMBER