Primary immunodeficiencyGene: SEC61A1
Comment on list classification: Promoted from Red to Amber after discussion with the Genomics England Clinical Team. As there are only 2 families described it was decided that this gene should be rated as Amber. Also added for-review tag.
Created: 18 May 2020, 9:44 a.m. | Last Modified: 18 May 2020, 9:44 a.m.
Panel Version: 2.170
Gene initially linked with renal phenotype in two families, inconsistent immunological findings (PMID 27392076). Further 11 individuals from two families reported in PMID: 28782633 with immunological phenotype.
Created: 11 Apr 2020, 9:33 a.m. | Last Modified: 11 Apr 2020, 9:33 a.m.
Panel Version: 2.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections
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
Tag watchlist was removed from gene: SEC61A1. Tag for-review tag was added to gene: SEC61A1.
Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: SEC61A1.
Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120
Publications for gene SEC61A1 were updated from 32048120; 32086639 to 28782633; 32086639; 32048120
gene: SEC61A1 was added gene: SEC61A1 was added to Primary immunodeficiency. 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 32048120; 32086639 Phenotypes for gene: SEC61A1 were set to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies