Mitochondrial disorders
Gene: TRMT10CEnsemblGeneIds (GRCh38): ENSG00000174173
EnsemblGeneIds (GRCh37): ENSG00000174173
OMIM: 615423, Gene2Phenotype
TRMT10C is in 5 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 3:40 p.m.
Shamima Rahman (UCL Institute of Child Health)
no mutation reports in literatureCreated: 6 Feb 2016, 11:43 p.m.
Ellen McDonagh (Genomics England Curator)
This gene was submitted as "MRPP1" in the expert list, which is likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:40 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Expert list
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 30, 616974
- OMIM
- 615423
- Clinvar variants
- Variants in TRMT10C
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: TRMT10C were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 30, 616974
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: TRMT10C was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: trmt10c has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: TRMT10C were set to
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to TRMT10C. Source Expert Review Green was added to TRMT10C. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to TRMT10C. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)TRMT10C was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list