Osteogenesis imperfecta
Gene: TNXBEnsemblGeneIds (GRCh38): ENSG00000168477
EnsemblGeneIds (GRCh37): ENSG00000168477
OMIM: 600985, Gene2Phenotype
TNXB is in 10 panels
3 reviews
Raymond Dalgleish (University of Leicester)
There are no known TNXB variants that cause OI. Some cases of Ehlers Danlos syndrome are caused by variants in this gene.Created: 7 Feb 2018, 9:37 a.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
There is no evidence to support a causal role of this gene in this particular diseaseCreated: 28 Sep 2015, 2:11 p.m.
Details
- Sources
-
- Expert
- OMIM
- 600985
- Clinvar variants
- Variants in TNXB
- Penetrance
- Complete
- Publications
- Panels with this gene
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- Unexplained young onset end-stage renal disease - additional genes
- Thoracic aortic aneurysm or dissection (GMS)
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- Fetal anomalies
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Osteogenesis imperfecta
- CAKUT
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for TNXB were set to 26799614
Added New Source
Ellen McDonagh (Genomics England Curator)TNXB was added to Osteogenesis Imperfecta panel. Sources: Expert