Possible mitochondrial disorder - nuclear genes
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
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- No OMIM phenotype
- OMIM
- 606219
- Clinvar variants
- Variants in TRAP1
- Penetrance
- None
- 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
4 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TRAP1 was added gene: TRAP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: TRAP1 was set to Unknown Phenotypes for gene: TRAP1 were set to No OMIM phenotype