macrothrombocytopenia, isolated
MONDO:0031447Mondo
Findings
No curated finding names macrothrombocytopenia, isolated 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.
- TRPM7HGNC:17994
- Moderate · ClinGen · Autosomal dominant · 2024
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of