Unexplained young onset end-stage renal disease - additional genes
Gene: TRAP1EnsemblGeneIds (GRCh38): ENSG00000126602
EnsemblGeneIds (GRCh37): ENSG00000126602
OMIM: 606219, Gene2Phenotype
TRAP1 is in 10 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with green 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
BIALLELIC, autosomal or pseudoautosomal
Eleanor Williams (Genomics England Curator)
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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
-
- CAKUT
- VATER/VACTERL ASSOCIATION, OMIM:192350
- Tags
- OMIM
- 606219
- Clinvar variants
- Variants in TRAP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- CAKUT
- VACTERL-like phenotypes
- Likely inborn error of metabolism
- Unexplained young onset end-stage renal disease - additional genes
- Paediatric disorders - additional genes
- Unexplained kidney failure in young people
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TRAP1 were changed from CAKUT; VACTERL 192350 to CAKUT; VATER/VACTERL ASSOCIATION, OMIM:192350
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes CAKUT; VACTERL 192350 for gene: TRAP1
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: TRAP1 was added gene: TRAP1 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green gene-checked tags were added to gene: TRAP1. Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAP1 were set to 24152966 Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL 192350