severe congenital neutropenia
MONDO:0018542Mondo
Findings
No curated finding names severe congenital neutropenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- GFI1HGNC:4237
- Moderate · Illumina · Autosomal dominant · 2023
Where it sits
- Narrower terms (8)
- autosomal dominant severe congenital neutropenia
- autosomal recessive severe congenital neutropenia
- neutropenia, severe congenital, 10, autosomal recessive
- neutropenia, severe congenital, 11, autosomal dominant
- neutropenia, severe congenital, 12, autosomal recessive
- neutropenia, severe congenital, 8, autosomal dominant
- neutropenia, severe congenital, 9, autosomal dominant
- X-linked severe congenital neutropenia
Other names
2 names
Resolves to: severe congenital neutropenia
- Also called
- neutropenia, severe congenitalSCN