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Primary immunodeficiency

Gene: SEC61A1

Amber List (moderate evidence)

SEC61A1 (Sec61 translocon alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000058262
EnsemblGeneIds (GRCh37): ENSG00000058262
OMIM: 609213, Gene2Phenotype
SEC61A1 is in 7 panels

3 reviews

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)

Green List (high evidence)

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)

I don't know

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • SEC61A1 deficiency
  • Severe recurrent respiratory tract infections
  • Hyperuricemic nephropathy, familial juvenile, 4, 617056
  • Predominantly Antibody Deficiencies
Tags
for-review
OMIM
609213
Clinvar variants
Variants in SEC61A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2020, Gel status: 2

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.

18 May 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: sec61a1 has been classified as Amber List (Moderate Evidence).

18 May 2020, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: SEC61A1.

17 Apr 2020, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SEC61A1 were set to 28782633; 32086639; 32048120

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SEC61A1 were updated from 32048120; 32086639 to 28782633; 32086639; 32048120

28 Feb 2020, Gel status: 1

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