Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: MT-TH

Green List (high evidence)

MT-TH (mitochondrially encoded tRNA histidine)
EnsemblGeneIds (GRCh38): ENSG00000210176
EnsemblGeneIds (GRCh37): ENSG00000210176
OMIM: 590040, Gene2Phenotype
MT-TH is in 6 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance

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: 12 Feb 2016, 11:07 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

4 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: MT-TH.

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

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-TH was added gene: MT-TH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL