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  3. SEC61A1
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Common Variable Immunodeficiency

Gene: SEC61A1

Green List (high evidence)
SEC61A1 (Sec61 translocon alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000058262
EnsemblGeneIds (GRCh37): ENSG00000058262
OMIM: 609213, Gene2Phenotype
SEC61A1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Further 11 individuals from two families reported in PMID: 28782633 with immunological phenotype.
Created: 13 Jan 2024, 8:25 p.m. | Last Modified: 13 Jan 2024, 8:25 p.m.
Panel Version: 1.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, common variable, 15, MIM# 620670

Publications

Created: 13 Jan 2024, 8:25 p.m.
Last Modified: 13 Jan 2024, 8:25 p.m.
Panel version: 1.10

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two unrelated families with a heterozygous missense (p.V85D) and nonsense (p.E381*) segregating with the disease phenotype, and supporting in vitro functional assays.
On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert list
Created: 21 Jul 2020, 7:51 a.m. | Last Modified: 21 Jul 2020, 7:51 a.m.
Panel Version: 0.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypogammaglobulinemia; common variable immunodeficiency

Publications

Created: 21 Jul 2020, 7:51 a.m.
Last Modified: 21 Jul 2020, 7:51 a.m.
Panel version: 0.69

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 15, MIM# 620670
OMIM
609213
Clinvar variants
Variants in SEC61A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEC61A1 were changed from hypogammaglobulinemia; common variable immunodeficiency to Immunodeficiency, common variable, 15, MIM# 620670

13 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sec61a1 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

21 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SEC61A1 was added gene: SEC61A1 was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to 28782633 Phenotypes for gene: SEC61A1 were set to hypogammaglobulinemia; common variable immunodeficiency Review for gene: SEC61A1 was set to AMBER