bone marrow failure syndrome
MONDO:0000159Mondo
Findings
No curated finding names bone marrow failure syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
5 genes
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.
- ERCC6L2HGNC:26922
- Definitive · ClinGen · Autosomal recessive · 2026
- LCP1HGNC:6528
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- MDM4HGNC:6974
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- PTPN13HGNC:9646
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- NPM1HGNC:7910
- Limited · ClinGen · Autosomal dominant · 2025