SEC61A1 deficiency
MONDO:0100337Mondo
Findings
No curated finding names SEC61A1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia.
Definition from the Mondo Disease Ontology (MONDO:0100337), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SEC61A1HGNC:18276
- Moderate · ClinGen · Autosomal dominant · 2021
Where it sits
- A kind of