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  2. CAKUT
  3. TRAP1
STRs in panel
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CAKUT

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

1 review

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Tags
gene-checked
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

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: TRAP1.

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

25 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Apr 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TRAP1 were set to PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL.

22 Apr 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TRAP1 was changed to BIALLELIC, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TRAP1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list