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| Cytopenia - NOT Fanconi anaemia v3.16 | SEC61A1 | Achchuthan Shanmugasundram Publications for gene: SEC61A1 were set to 32325141; 27392076 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.15 | SEC61A1 | Achchuthan Shanmugasundram 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.14 | SEC61A1 | Achchuthan Shanmugasundram Classified gene: SEC61A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.14 | SEC61A1 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.14 | SEC61A1 | Achchuthan Shanmugasundram Gene: sec61a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.13 | SEC61A1 | Achchuthan Shanmugasundram reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: severe congenital neutropenia, MONDO:0018542, Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v3.4 | SEC61A1 |
Hannah Knight 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 Added comment: 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 |
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