Unexplained young onset end-stage renal disease - additional genes
Gene: TNXBEnsemblGeneIds (GRCh38): ENSG00000168477
EnsemblGeneIds (GRCh37): ENSG00000168477
OMIM: 600985, Gene2Phenotype
TNXB is in 10 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with red rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Mode of inheritance
Unknown
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of RedCreated: 9 Apr 2019, 11:17 a.m.
Helen Stuart (University of Manchester)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- OMIM
- 600985
- Clinvar variants
- Variants in TNXB
- Penetrance
- None
- Panels with this gene
-
- 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
- Thoracic aortic aneurysm or dissection
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Osteogenesis imperfecta
- CAKUT
History Filter Activity
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: TNXB was added gene: TNXB was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: TNXB was set to Unknown