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Undiagnosed metabolic disorders

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

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.
Sources: Expert list
Created: 22 Oct 2019, 9:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VACTERL; CAKUT

Publications

History Filter Activity

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: 1

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

Catherine Snow (Genomics England)

gene: TRAP1 was added gene: TRAP1 was added to Undiagnosed metabolic disorders. Sources: Expert list Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAP1 were set to 24152966 Phenotypes for gene: TRAP1 were set to VACTERL; CAKUT Review for gene: TRAP1 was set to GREEN