bone marrow failure syndrome 4
MONDO:0020856Mondo
Findings
No curated finding names bone marrow failure syndrome 4 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.
- MYSM1HGNC:29401
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: bone marrow failure syndrome 4
- Also called
- BMFS4