Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: MT-TC

Green List (high evidence)

MT-TC (mitochondrially encoded tRNA cysteine)
EnsemblGeneIds (GRCh38): ENSG00000210140
EnsemblGeneIds (GRCh37): ENSG00000210140
OMIM: 590020, Gene2Phenotype
MT-TC is in 4 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 1:11 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MELAS SYNDROME
  • DYSTONIA, MITOCHONDRIAL
OMIM
590020
Clinvar variants
Variants in MT-TC
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes MELAS SYNDROME; DYSTONIA, MITOCHONDRIAL for gene: MT-TC

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MT-TC was added gene: MT-TC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL Phenotypes for gene: MT-TC were set to MELAS SYNDROME; DYSTONIA, MITOCHONDRIAL