neutropenia, severe congenital, 2, autosomal dominant
MONDO:0013139Mondo
Findings
No curated finding names neutropenia, severe congenital, 2, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013139), 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.
- GFI1HGNC:4237
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
3 names
Resolves to: neutropenia, severe congenital, 2, autosomal dominant
- Also called
- autosomal dominant severe congenital neutropenia caused by mutation in GFI1GFI1 autosomal dominant severe congenital neutropenianeutropenia, severe congenital 2, autosomal dominant