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  3. SEC61A1
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Cytopenia - NOT Fanconi anaemia

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: As reviewed by Hannah Knight, there are two unrelated cases reported with neutropenia. Hence, this gene can be rated amber with the current evidence.
Created: 10 Nov 2023, 2:27 p.m. | Last Modified: 10 Nov 2023, 2:27 p.m.
Panel Version: 3.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
severe congenital neutropenia, MONDO:0018542; Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056

Created: 10 Nov 2023, 2:25 p.m.
Last Modified: 10 Nov 2023, 2:25 p.m.
Panel version: 3.13

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

PMID: 32325141 - reported a patient with a de novo variant in this gene, presenting with severe congenital neutropenia and recurrent infections
PMID: 27392076 - neutropenia previously reported in a father and daughter with tubulointerstitial kidney disease due to a heterozygous SEC61A1 variant
Sources: Literature
Created: 13 Oct 2023, 9:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Severe congenital neutropenia; Tubulointerstitial kidney disease, autosomal dominant, 5

Publications

Created: 13 Oct 2023, 9:58 a.m.

Panel version: 3.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • severe congenital neutropenia, MONDO:0018542
  • Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056
OMIM
609213
Clinvar variants
Variants in SEC61A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2023, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: SEC61A1 were set to 32325141; 27392076

10 Nov 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SEC61A1 were changed from Severe congenital neutropenia; Tubulointerstitial kidney disease, autosomal dominant, 5 to severe congenital neutropenia, MONDO:0018542; Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056

10 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

13 Oct 2023, Gel status: 0

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

Hannah Knight (NIHR BioResource - University of Cambridge)

gene: SEC61A1 was added gene: SEC61A1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEC61A1 were set to 32325141; 27392076 Phenotypes for gene: SEC61A1 were set to Severe congenital neutropenia; Tubulointerstitial kidney disease, autosomal dominant, 5 Review for gene: SEC61A1 was set to AMBER