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COVID-19 research

Gene: SH3KBP1

Green List (high evidence)
SH3KBP1 (SH3 domain containing kinase binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000147010
EnsemblGeneIds (GRCh37): ENSG00000147010
OMIM: 300374, Gene2Phenotype
SH3KBP1 is in 2 panels

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Single human patient reported but other evidence in mice and in vitro indicates important role of the encoded molecule in B cell function/humoral immunity
Created: 5 May 2020, 10:33 a.m. | Last Modified: 5 May 2020, 10:33 a.m.
Panel Version: 0.180

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
hypogammaglobulinaemia

Created: 5 May 2020, 10:33 a.m.
Last Modified: 5 May 2020, 10:33 a.m.
Panel version: 0.180

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

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: Imported from Primary immunodeficiency panel version 2.36

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2019
Phenotypes
  • Severe bacterial infections
  • SH3KBP1 (CIN85) deficiency
  • Predominantly Antibody Deficiencies
  • Immunodeficiency 61, 300310
OMIM
300374
Clinvar variants
Variants in SH3KBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to SH3KBP1. Added phenotypes Predominantly Antibody Deficiencies; Severe bacterial infections; SH3KBP1 (CIN85) deficiency; Immunodeficiency 61, 300310 for gene: SH3KBP1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SH3KBP1 was added gene: SH3KBP1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH3KBP1 were set to 32086639; 32048120; 29636373 Phenotypes for gene: SH3KBP1 were set to Predominantly Antibody Deficiencies; Severe bacterial infections; SH3KBP1 (CIN85) deficiency; Immunodeficiency 61, 300310