Renal and urinary tract disorders
Gene: TRAP1EnsemblGeneIds (GRCh38): ENSG00000126602
EnsemblGeneIds (GRCh37): ENSG00000126602
OMIM: 606219, Gene2Phenotype
TRAP1 is in 10 panels
2 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported in CAKUT and at least five in VACTERLCreated: 5 Aug 2016, 12:11 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- VACTERL 192350
- CAKUT
- OMIM
- 606219
- Clinvar variants
- Variants in TRAP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- VACTERL-like phenotypes
- Likely inborn error of metabolism
- CAKUT
- Paediatric disorders - additional genes
- Unexplained kidney failure in young people
- Possible mitochondrial disorder - nuclear genes
- Unexplained young onset end-stage renal disease - additional genes
- Undiagnosed metabolic disorders
- Fetal anomalies
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Comment when marking as ready:
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes VACTERL 192350; CAKUT for gene: TRAP1 Publications for gene TRAP1 were changed from PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. to 24152966
Created, Added New Source, Set mode of inheritance, Set publications
Ellen McDonagh (Genomics England Curator)gene: TRAP1 was added gene: TRAP1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAP1 were set to PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL.