Primary immunodeficiencyGene: ERBIN
Comment on list classification: Promoted from Red to Amber based on expert review. Only one family identified and functional studies so will remain Amber.
Created: 28 Apr 2020, 7:07 a.m. | Last Modified: 28 Apr 2020, 7:07 a.m.
Panel Version: 2.129
Single family and functional data.
Created: 10 Apr 2020, 6:37 a.m. | Last Modified: 10 Apr 2020, 6:37 a.m.
Panel Version: 2.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some
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
Approved HGNC gene symbol for ERBB2IP is ERBIN. ERBB2IP submitted via IUIS December 2019 update
Created: 28 Feb 2020, 12:33 p.m. | Last Modified: 28 Feb 2020, 12:33 p.m.
Panel Version: 2.11
Gene: erbin has been classified as Amber List (Moderate Evidence).
Publications for gene ERBIN were updated from 32086639; 32048120 to 28126831; 32086639; 32048120
Tag new-gene-name tag was added to gene: ERBIN.
gene: ERBIN was added gene: ERBIN was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: ERBIN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERBIN were set to 32086639; 32048120 Phenotypes for gene: ERBIN were set to ERBIN deficiency; Combined immunodeficiencies with associated or syndromic features; Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some