Likely inborn error of metabolism - targeted testing not possible
Gene: TRAP1
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag gene-checked tag was added to gene: TRAP1.
Mode of inheritance for gene: TRAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT
Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT
Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT
Mode of inheritance for gene: TRAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAP1 were changed from VACTERL; CAKUT to VACTERL; CAKUT
Phenotypes for gene: TRAP1 were changed from to VACTERL; CAKUT
Gene: trap1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: trap1 has been classified as Green List (High Evidence).
Sarah Leigh: Associated with phenotype in O
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.