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  3. SH3KBP1
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Predominantly Antibody Deficiency

Gene: SH3KBP1

Amber List (moderate 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

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single family reported and a null mouse model that recapitulates the phenotype.
Created: 12 Nov 2024, 9:42 a.m. | Last Modified: 12 Nov 2024, 9:42 a.m.
Panel Version: 0.148

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

Phenotypes
immunodeficiency 61 MONDO:0010296

Publications

Created: 12 Nov 2024, 9:42 a.m.
Last Modified: 12 Nov 2024, 9:42 a.m.
Panel version: 0.149

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported, 247.5-kb intragenic deletion detected by array. Some functional data.
Sources: Expert list
Created: 5 Apr 2020, 2:01 a.m.

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

Phenotypes
Immunodeficiency 61, MIM# 300310

Publications

Created: 5 Apr 2020, 2:01 a.m.

Panel version: 0.27

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Immunodeficiency 61, MIM# 300310
Tags
SV/CNV
OMIM
300374
Clinvar variants
Variants in SH3KBP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sh3kbp1 has been classified as Amber List (Moderate Evidence).

5 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sh3kbp1 has been classified as Red List (Low Evidence).

5 Apr 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: SH3KBP1.

5 Apr 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: SH3KBP1 was added gene: SH3KBP1 was added to Predominantly Antibody Deficiency. Sources: Expert list 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 29636373; 21708930 Phenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM# 300310 Review for gene: SH3KBP1 was set to RED