Predominantly Antibody Deficiency
Gene: SH3KBP1
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
Single family reported, 247.5-kb intragenic deletion detected by array. Some functional data.
Sources: Expert listCreated: 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
Gene: sh3kbp1 has been classified as Amber List (Moderate Evidence).
Gene: sh3kbp1 has been classified as Red List (Low Evidence).
Tag SV/CNV tag was added to gene: SH3KBP1.
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