Possible mitochondrial disorder - nuclear genes
Gene: TRIT1EnsemblGeneIds (GRCh38): ENSG00000043514
EnsemblGeneIds (GRCh37): ENSG00000043514
TRIT1 is in 7 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 35, 617873
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
- NHS GMS
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 35, OMIM:617873
- combined oxidative phosphorylation deficiency 35, MONDO:0054742
- Tags
- Clinvar variants
- Variants in TRIT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: TRIT1 were set to
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: TRIT1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TRIT1 was added gene: TRIT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873