WHIM syndrome
MONDO:0023880Mondo
Findings
No curated finding names WHIM syndrome 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.
- CXCR4HGNC:2561
- Definitive · ClinGen · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (2)