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Mitochondrial disease

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported, supportive functional data.
Created: 8 Apr 2022, 12:57 a.m. | Last Modified: 8 Apr 2022, 12:57 a.m.
Panel Version: 0.782

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 30, MIM# 616974

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
OMIM
615423
Clinvar variants
Variants in TRMT10C
Penetrance
None
Panels with this gene

History Filter Activity

8 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRMT10C was added gene: TRMT10C was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: TRMT10C was set to Unknown