Optic neuropathy
Gene: MT-TS2

MT-TS2 (mitochondrially encoded tRNA serine 2 (AGU/C))
EnsemblGeneIds (GRCh38): ENSG00000210184
EnsemblGeneIds (GRCh37): ENSG00000210184
OMIM: 590085, Gene2Phenotype
MT-TS2 is in 7 panels

3 reviews

Ida Ertmanska (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. The GMS reviewers commented as follows: More appropriate for specialist mitochondrial lab to test for this - 1) Alternative panel test available for this gene (R42.2 - Leber hereditary optic neuropathy). 2). May not be technically feasible for all laboratories to include this gene on the panel.
Created: 11 Dec 2025, 4:54 p.m. | Last Modified: 11 Dec 2025, 4:54 p.m.

Panel Version: 5.28

Created: 11 Dec 2025, 4:54 p.m.
Last Modified: 11 Dec 2025, 4:54 p.m.
Panel version: 5.28

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: Katherine Schon has reviewed this gene green on this panel. However, the ophthalmological phenotypes reported in the families identified with m.12258C>A variant are retinitis pigmentosa and cataracts. Hence, expert review is sought from the Genomic Medicine Service on the rating of MT-TS2 gene on this panel.
Created: 28 Jun 2025, 9:22 p.m. | Last Modified: 28 Jun 2025, 9:22 p.m.

Panel Version: 5.23

PMIDs: 8432539;9135384;10090882 - A large Irish kindred was reported with progressive sensorineural hearing loss and retinitis pigmentosa. The patients also had optic disc pallor and progressive visual loss. They were identified with pathogenic m.12258C>A variant in MT-TS2 gene.

PMID:9792552 - A 61-year-old mother and 30-year old daughter were reported with maternally inherited syndrome consisting of cerebellar ataxia, cataracts, deafness and diabetes. They were identified with m.12258C>A variant.

PMID:12086967 - This study reported 28 patients that had maternally inherited diabetes with or without one or more additional features of mitochondrial disease, including bilateral sensorineural deafness and neuromuscular disease. One of these patients with additional features (cerebellar ataxia, bilateral nerve deafness and cataracts) harboured m.12258C>A variant.
Created: 28 Jun 2025, 9:10 p.m. | Last Modified: 28 Jun 2025, 9:12 p.m.

Panel Version: 5.22

Mode of inheritance
MITOCHONDRIAL

Publications

Created: 28 Jun 2025, 9:10 p.m.
Last Modified: 28 Jun 2025, 9:12 p.m.
Panel version: 5.21

Katherine Schon (University of Cambridge)

Green List (high evidence)

Optic disc pallor and progressive visual loss are common in reported patients with m.12258C>A variant in MT-TS2.
Created: 23 Jun 2025, 11:36 a.m. | Last Modified: 23 Jun 2025, 11:36 a.m.

Panel Version: 5.3

Mode of inheritance
MITOCHONDRIAL

Publications

Mode of pathogenicity
Other

Created: 23 Jun 2025, 11:36 a.m.
Last Modified: 23 Jun 2025, 11:36 a.m.
Panel version: 5.3

Details

Mode of Inheritance

MITOCHONDRIAL

Sources

Expert Review Amber
Literature

Tags

locus-type-rna-transfer technical-limitations

OMIM

590085

Clinvar variants

Variants in MT-TS2

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

11 Dec 2025, Gel status: 2

Removed Tag, Removed Tag, Removed Tag, Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: MT-TS2. Tag Q2_25_expert_review was removed from gene: MT-TS2. Tag Q2_25_ NHS_review was removed from gene: MT-TS2. Tag technical-limitations tag was added to gene: MT-TS2.

29 Jun 2025, Gel status: 2