Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SEC61A1EnsemblGeneIds (GRCh38): ENSG00000058262
EnsemblGeneIds (GRCh37): ENSG00000058262
OMIM: 609213, Gene2Phenotype
SEC61A1 is in 7 panels
7 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.
Panel Version: 5.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
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
Hannah Knight (NIHR BioResource - University of Cambridge)
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
Arina Puzriakova (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Louise Daugherty (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- IUIS Classification December 2019
- Phenotypes
-
- SEC61A1 deficiency
- Severe recurrent respiratory tract infections
- Hyperuricemic nephropathy, familial juvenile, 4, 617056
- Predominantly Antibody Deficiencies
- Hypogammaglobulinaemia
- Severe congenital neutropenia
- OMIM
- 609213
- Clinvar variants
- Variants in SEC61A1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: SEC61A1. Tag Q4_23_NHS_review was removed from gene: SEC61A1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to SEC61A1. Source Expert Review Green was added to SEC61A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120; 27392076
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: SEC61A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: SEC61A1. Tag Q4_23_NHS_review tag was added to gene: SEC61A1.
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: SEC61A1.
Removed Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist was removed from gene: SEC61A1. Tag for-review tag was added to gene: SEC61A1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag watchlist tag was added to gene: SEC61A1.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene SEC61A1 were updated from 32048120; 32086639 to 28782633; 32086639; 32048120
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)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