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  2. Likely inborn error of metabolism
  3. TRMT10C
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Likely inborn error of metabolism

Gene: TRMT10C

Green List (high evidence)
TRMT10C (tRNA methyltransferase 10C, mitochondrial RNase P subunit)
EnsemblGeneIds (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.
Created: 23 May 2019, 3:40 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.366

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature
Created: 6 Feb 2016, 11:43 p.m.
Created: 6 Feb 2016, 11:43 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

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.
Created: 1 Jul 2015, 10:40 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 30, 616974
OMIM
615423
Clinvar variants
Variants in TRMT10C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to TRMT10C. Mode of inheritance for gene TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C Publications for gene TRMT10C were changed from to 27132592 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TRMT10C was added gene: TRMT10C was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRMT10C was set to Unknown Phenotypes for gene: TRMT10C were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)