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Phagocyte Defects

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

1 review

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.

PMID 28782633: 11 individuals with primarily CVID phenotype, including neutropenia.
Created: 13 Jan 2024, 8:34 p.m. | Last Modified: 13 Jan 2024, 8:34 p.m.
Panel Version: 1.23
Two families with primarily renal phenotype, some haem/immunological abnormalities (one with neutropaenia). Two families predominantly with hypogammaglobulinaemia, and one presenting with congenital neutropaenia. May represent same disorder with different manifestations depending on age/ascertainment, or neutropenia may be linked to particular variants, unclear at present due to low number of families reported.
Sources: Expert list
Created: 26 Aug 2020, 10:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 26 Aug 2020, 10:38 p.m.

Panel version: 1.23

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
  • Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674
  • 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 Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674; 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).

28 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Mar 2021, 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 Phagocyte Defects. 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 27392076; 32325141; 28782633 Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia