distal arthrogryposis type 2B1
MONDO:0020820Mondo
Findings
No curated finding names distal arthrogryposis type 2B1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
3 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.
- MYH3HGNC:7573
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- TNNI2HGNC:11946
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- TNNT3HGNC:11950
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: distal arthrogryposis type 2B1
- Also called
- arthrogryposis, distal, type 2B1DA2B1