BLNK

B-cell linker
OMIM: 604515, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green BLNK in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 A- or hypo-gammaglobulinaemia v1.25 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Agammaglobulinemia Agammaglobulinemia 4, 613502 Severe bacterial infections, normal numbers of pro-B cells Agammaglobulinemia 4 Predominantly Antibody Deficiencies agammaglobulinaemia with absent B cells
Green BLNK in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Agammaglobulinemia 4, 613502 agammaglobulinaemia with absent B cells Agammaglobulinemia 4 Agammaglobulinemia Severe bacterial infections, normal numbers of pro-B cells Predominantly Antibody Deficiencies
Amber BLNK in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Amber Expert list Phenotypes ?Agammaglobulinemia 4, 613502