Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SEC61A1
Comment on list classification: There are three unrelated cases in support of the association of this gene with this panel. Hence, this gene can be promoted to green rating in the next GMS review.Created: 1 Nov 2023, 11:03 p.m. | Last Modified: 1 Nov 2023, 11:03 p.m.
Panel Version: 4.105
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
PMID: 32325141 - reported a patient with a de novo variant in this gene, presenting with severe congenital neutropenia and recurrent infectionsCreated: 13 Oct 2023, 9:16 a.m. | Last Modified: 13 Oct 2023, 9:16 a.m.
Panel Version: 4.41
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Severe congenital neutropenia
Publications
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It was agreed that SEC61A1 should remain amber at this time.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:46 a.m.
Panel Version: 2.530
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
Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections
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
Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SEC61A1 were changed from SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Severe congenital neutropenia to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Hypogammaglobulinaemia; Severe congenital neutropenia
Phenotypes for gene: SEC61A1 were changed from SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies to SEC61A1 deficiency; Severe recurrent respiratory tract infections; Hyperuricemic nephropathy, familial juvenile, 4, 617056; Predominantly Antibody Deficiencies; Severe congenital neutropenia
Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120; 27392076
Mode of inheritance for gene: SEC61A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q4_23_promote_green tag was added to gene: SEC61A1. Tag Q4_23_NHS_review tag was added to gene: SEC61A1.
Tag for-review was removed from gene: SEC61A1.
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