Mitochondrial disorders
Gene: TRIT1Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 6 variants reported in at least 6 unrelated cases.Created: 25 Apr 2019, 3:15 p.m.
Four unrelated families reported with bi-allelic variants in this gene.Created: 1 Sep 2018, 4:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 35, MIM#617873
Publications
Variants in this GENE are reported as part of current diagnostic practice
single mutation report in literatureCreated: 5 Feb 2016, 12:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, OMIM:617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873; combined oxidative phosphorylation deficiency 35, MONDO:0054742
Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35 617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873
Tag gene-checked tag was added to gene: TRIT1.
Gene: trit1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: TRIT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIT1 were set to
Phenotypes for gene: TRIT1 were changed from No OMIM phenotype; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 35 617873
Victorian Clinical Genetics Services was added to TRIT1. Panel: Mitochondrial disorders
TRIT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Expert list
TRIT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Expert list
TRIT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Expert list