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Retinal disorders

Gene: MT-TH

Amber List (moderate evidence)

MT-TH (mitochondrially encoded tRNA histidine)
EnsemblGeneIds (GRCh38): ENSG00000210176
EnsemblGeneIds (GRCh37): ENSG00000210176
OMIM: 590040, Gene2Phenotype
MT-TH is in 5 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • NHS GMS
  • RetNet
  • Expert Review Amber
Tags
locus-type-rna-transfer
OMIM
590040
Clinvar variants
Variants in MT-TH
Penetrance
None
Panels with this gene

History Filter Activity

15 Jul 2024, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-transfer tag was added to gene: MT-TH.

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: MT-TH was added gene: MT-TH was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL