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Inborn errors of metabolism

Gene: TRAP1

Green List (high evidence)

TRAP1 (TNF receptor associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000126602
EnsemblGeneIds (GRCh37): ENSG00000126602
OMIM: 606219, Gene2Phenotype
TRAP1 is in 9 panels

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

Not in OMIM or Gene2Phenotype. Recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. Metabolism phenotype as the encoded protein has ATPase activity and interacts with tumor necrosis factor type I.
Created: 22 Oct 2019, 9:41 a.m. | Last Modified: 22 Oct 2019, 9:41 a.m.
Panel Version: 1.373

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VACTERL; CAKUT

Publications

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • VACTERL
  • CAKUT
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

History Filter Activity

22 Oct 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

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

22 Oct 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

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

22 Oct 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

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

22 Oct 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

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

22 Oct 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

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

22 Oct 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

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

22 Oct 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

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

22 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

22 Oct 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

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

22 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

gene: TRAP1 was added gene: TRAP1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRAP1 was set to Unknown Publications for gene: TRAP1 were set to PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL.