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  2. Predominantly Antibody Deficiency
  3. BLNK
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Predominantly Antibody Deficiency

Gene: BLNK

Green List (high evidence)
BLNK (B-cell linker)
EnsemblGeneIds (GRCh38): ENSG00000095585
EnsemblGeneIds (GRCh37): ENSG00000095585
OMIM: 604515, Gene2Phenotype
BLNK is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated families reported.
Created: 14 Aug 2021, 2:40 a.m. | Last Modified: 14 Aug 2021, 2:40 a.m.
Panel Version: 0.83

Phenotypes
Agammaglobulinaemia 4, MIM# 613502

Publications

Created: 14 Aug 2021, 2:40 a.m.
Last Modified: 14 Aug 2021, 2:40 a.m.
Panel version: 0.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinaemia 4, MIM# 613502
Tags
treatable
OMIM
604515
Clinvar variants
Variants in BLNK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: BLNK.

14 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BLNK were changed from to Agammaglobulinaemia 4, MIM# 613502

14 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BLNK were set to

14 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BLNK was added gene: BLNK was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: BLNK was set to Unknown