Unexplained kidney failure in young people
Gene: TRAP1
TRAP1 (TNF receptor associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000126602
EnsemblGeneIds (GRCh37): ENSG00000126602
OMIM: 606219, Gene2Phenotype
TRAP1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000126602
EnsemblGeneIds (GRCh37): ENSG00000126602
OMIM: 606219, Gene2Phenotype
TRAP1 is in 10 panels
1 review
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
- Expert list
- Phenotypes
-
- CAKUT
- VACTERL 192350
- Tags
- OMIM
- 606219
- Clinvar variants
- Variants in TRAP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- VACTERL-like phenotypes
- Paediatric disorders - additional genes
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- CAKUT
- Unexplained kidney failure in young people
- Unexplained young onset end-stage renal disease - additional genes
History Filter Activity
8 May 2022, Gel status: 3
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: TRAP1.
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
5 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Aug 2016, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for TRAP1 were set to 24152966
5 Aug 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TRAP1 were set to CAKUT; VACTERL 192350
20 Jun 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TRAP1 were set to CAKUT; VACTERL
18 May 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)TRAP1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review Green
18 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)TRAP1 was created by sleigh