Cytopenia - NOT Fanconi anaemia
Gene: SEC61A1
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
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: LiteratureCreated: 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
Publications for gene: SEC61A1 were set to 32325141; 27392076
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
Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
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