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Primary immunodeficiency

Gene: SH3KBP1

Red List (low 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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported, 247.5-kb intragenic deletion detected by array. Some functional data.
Created: 11 Apr 2020, 10:22 a.m. | Last Modified: 11 Apr 2020, 10:22 a.m.
Panel Version: 2.51

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

Phenotypes
Immunodeficiency 61, MIM# 300310

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

History Filter Activity

17 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SH3KBP1 were set to 32086639; 32048120; 29636373

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SH3KBP1 were updated from 32048120; 32086639 to 32086639; 32048120; 29636373

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: SH3KBP1 was added gene: SH3KBP1 was added to Primary immunodeficiency. 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 32048120; 32086639 Phenotypes for gene: SH3KBP1 were set to SH3KBP1 (CIN85) deficiency; Severe bacterial infections; Predominantly Antibody Deficiencies; Immunodeficiency 61, 300310