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COVID-19 research

Gene: SEC61A1

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

2 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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

Created: 1 May 2020, 12:53 p.m.
Last Modified: 1 May 2020, 12:53 p.m.
Panel version: 0.171

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

Created: 28 Feb 2020, 8:49 p.m.
Last Modified: 28 Feb 2020, 8:49 p.m.
Panel version: Imported from Primary immunodeficiency panel version 2.36

Details

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

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

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)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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