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Mendeliome

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

3 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Two families with primarily renal phenotype, some haem/immunological abnormalities (anaemia/neutropaenia). Two families predominantly with hypogammaglobulinaemia, one presenting with congenital neutropaenia. May represent same disorder with different manifestations depending on age/ascertainment

PMID: 27392076: missense show significant reductions in protein and retention in the golgi. Zebrafish model recapitulated the human phenotype, where mutant RNA could not rescue. Concludes LOF.

PMID: 28782633: missense shows cellular stress maintained when coexpressing WT (?DN). PTC reported, displayed reduced protein and mRNA levels

No clear distinction btw mechanism, variant type and resulting phenotype
Created: 27 Nov 2020, 3:20 a.m. | Last Modified: 27 Nov 2020, 3:20 a.m.
Panel Version: 0.5474

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 32325141: single individual with de novo missense and phenotype primarily characterised by severe neutropenia.
Created: 13 Jan 2024, 8:38 p.m. | Last Modified: 13 Jan 2024, 8:38 p.m.
Panel Version: 1.1477
Two families with primarily renal phenotype, some haem/immunological abnormalities (anaemia/neutropaenia). Two families predominantly with hypogammaglobulinaemia, one presenting with congenital neutropaenia. May represent same disorder with different manifestations depending on age/ascertainment.
Created: 26 Aug 2020, 10:03 p.m. | Last Modified: 26 Aug 2020, 10:03 p.m.
Panel Version: 0.3947

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Immunodeficiency, common variable, 15, MIM# 620670; Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
  • Immunodeficiency, common variable, 15, MIM# 620670
  • Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674
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 Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Immunodeficiency, common variable, 15, MIM# 620670; Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674

13 Jan 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEC61A1 were set to 27392076; 32325141; 28782633

26 Aug 2020, 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).

26 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEC61A1 were changed from to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia

26 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEC61A1 were set to

26 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SEC61A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEC61A1 was added gene: SEC61A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SEC61A1 was set to Unknown