VACTERL-like phenotypes

Gene: TRAP1

Green List (high evidence)

TRAP1 (TNF receptor associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000126602
EnsemblGeneIds (GRCh37): ENSG00000126602
OMIM: 606219, Gene2Phenotype
TRAP1 is in 10 panels

2 reviews

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)

Green List (high evidence)

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
  • Literature
Phenotypes
  • VACTERL
  • CAKUT
OMIM
606219
Clinvar variants
Variants in TRAP1
Penetrance
Complete
Publications
  • PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL.
Panels with this gene

History Filter Activity

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TRAP1 was added to VACTERL-like phenotypespanel. Sources: Literature

22 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TRAP1 was created by ellenmcdonagh