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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. TRAP1
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: TRAP1

Green List (high evidence)
TRAP1 (TNF receptor associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000126602
EnsemblGeneIds (GRCh37): ENSG00000126602
OMIM: 606219, Gene2Phenotype
TRAP1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants reported in two families with CAKUT and three families with VACTERL.
Created: 16 Mar 2020, 11:02 p.m. | Last Modified: 16 Mar 2020, 11:02 p.m.
Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CAKUT; VACTERL

Publications

Created: 16 Mar 2020, 11:02 p.m.
Last Modified: 16 Mar 2020, 11:02 p.m.
Panel version: 0.68

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
  • VACTERL
OMIM
606219
Clinvar variants
Variants in TRAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trap1 has been classified as Green List (High Evidence).

16 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAP1 were changed from to CAKUT; VACTERL

16 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAP1 were set to

16 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAP1 was added gene: TRAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRAP1 was set to Unknown