COVID-19 research
Gene: SEC61A1
Allelic disorders: tubulointerstitial and Glomerulocystic Kidney Disease with Anemia (PMID 27392076), severe congenital neutropenia (PMID 32325141) and plasma cell deficiency (PMID 28782633)Created: 1 May 2020, 12:53 p.m. | Last Modified: 1 May 2020, 12:53 p.m.
Panel Version: 0.171
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypogammaglobulinaemia; recurrent infections; plasma cell deficiency; severe congenital neutropenia; tubulointerstitial and Glomerulocystic Kidney Disease with Anemia
Publications
Added publication referenced by IUIS december 2019 updateCreated: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Publications
Source Expert Review Green was added to SEC61A1. Added phenotypes Severe recurrent respiratory tract infections; Predominantly Antibody Deficiencies; Hyperuricemic nephropathy, familial juvenile, 4, 617056; SEC61A1 deficiency for gene: SEC61A1 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SEC61A1 was added gene: SEC61A1 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120 Phenotypes for gene: SEC61A1 were set to Severe recurrent respiratory tract infections; Predominantly Antibody Deficiencies; Hyperuricemic nephropathy, familial juvenile, 4, 617056; SEC61A1 deficiency