Primary immunodeficiencyGene: SH3KBP1
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
Immunodeficiency 61, MIM# 300310
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 for gene: SH3KBP1 were set to 32086639; 32048120; 29636373
Publications for gene SH3KBP1 were updated from 32048120; 32086639 to 32086639; 32048120; 29636373
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