Kidneyome_SuperPanel_VCGS
Gene: TNXBEnsemblGeneIds (GRCh38): ENSG00000168477
EnsemblGeneIds (GRCh37): ENSG00000168477
OMIM: 600985, Gene2Phenotype
TNXB is in 10 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Vesicoureteral reflux 8, MIM# 615963
- OMIM
- 600985
- Clinvar variants
- Variants in TNXB
- Penetrance
- None
- Publications
- Panels with this gene
-
- CAKUT
- Thoracic aortic aneurysm or dissection (GMS)
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TNXB was added gene: TNXB was added to Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red Mode of inheritance for gene: TNXB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNXB were set to 23620400 Phenotypes for gene: TNXB were set to Vesicoureteral reflux 8, MIM# 615963