Mitochondrial disorders
Gene: TRIT1EnsemblGeneIds (GRCh38): ENSG00000043514
EnsemblGeneIds (GRCh37): ENSG00000043514
TRIT1 is in 7 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment 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.
Zornitza Stark (Australian Genomics)
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
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literatureCreated: 5 Feb 2016, 12:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert list
- Expert
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 35, OMIM:617873
- combined oxidative phosphorylation deficiency 35, MONDO:0054742
- Clinvar variants
- Variants in TRIT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked was removed from gene: TRIT1.
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35 617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: TRIT1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: trit1 has been classified as Green List (High Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: TRIT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: TRIT1 were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to TRIT1. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)TRIT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)TRIT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)TRIT1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen,Expert,Expert list