Paediatric disorders - additional 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
3 reviews
Rebecca Foulger (Genomics England curator)
TRAP1 is Green on the 'VACTERL-like phenotypes panel version 0.27'. TRAP1 was added to this 'Paediatric disorders - additional genes panel' for tracking, in case the VACTERL panel is removed as a component panel from the 'Paediatric disorders' Superpanel because TRAP1 does not feature as a Green gene on any of the other component panels.Created: 17 Jun 2019, 8:23 p.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Recent evidence in multiple families.Created: 27 May 2016, 11:24 a.m.
Ellen McDonagh (Genomics England Curator)
PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL.Created: 22 Apr 2016, 10:51 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- CAKUT
- VACTERL
- Tags
- OMIM
- 606219
- Clinvar variants
- Variants in TRAP1
- Penetrance
- None
- Publications
-
- PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL.
- 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
8 May 2022, Gel status: 3
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: TRAP1.
17 Jun 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TRAP1 was added gene: TRAP1 was added to Paediatric disorders - additional genes. 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. Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL