Optic neuropathy
Gene: MT-ND2

MT-ND2 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000198763
EnsemblGeneIds (GRCh37): ENSG00000198763
OMIM: 516001, Gene2Phenotype
MT-ND2 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, 4:59 p.m.

Panel Version: 5.28

Created: 11 Dec 2025, 4:54 p.m.
Last Modified: 11 Dec 2025, 4:59 p.m.
Panel version: 5.28

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: This gene has been reviewed green by Katherine Schon on this panel. Expert review from the Genomic Medicine Service is being sought on the inclusion of this gene with green rating on this panel.
Created: 25 Jun 2025, 11:52 a.m. | Last Modified: 25 Jun 2025, 11:52 a.m.

Panel Version: 5.7

PMID:8680405 - 47 patients with Leber's hereditary optic neuropathy (LHON) were reported, of which one patient had heteroplasmic m.5244G>A variant together with other mitochondrial variants.

PMID:11479733 - Five Russian families were reported maternally transmitted optic atrophy consistent with LHON. Of these, one family was identified with m.4640C>A variant in MT-ND2 gene.

PMID:21145289 - Two unrelated patients were reported with pharmacoresistant temporal lobe epilepsy (TLE) and they displayed loss of vision in the context of presurgical assessment. One patient was identified with m.4640C>A variant in MT-ND2 gene, while other was detected with m.11778G>A variant in MT-ND4 gene.

PMID:20454697 - Ten patients with LHON were reported with mitochondrial variants, of which two patients were identified with pathogenic m.4852T>A (p.L128Q) variant. One of them also had p.L13L variant in CYB gene, while the other one had a few other mitochondrial variants.
Created: 25 Jun 2025, 11:50 a.m. | Last Modified: 25 Jun 2025, 11:50 a.m.

Panel Version: 5.6

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Leber hereditary optic neuropathy, MONDO:0010788

Publications

Created: 25 Jun 2025, 11:50 a.m.
Last Modified: 25 Jun 2025, 11:50 a.m.
Panel version: 5.6

Katherine Schon (University of Cambridge)

Green List (high evidence)

Rare LHON variants are found in MT-ND2; m.4640C>A, m.5244G>A.
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

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

Phenotypes

Leber hereditary optic neuropathy, MONDO:0010788

Tags

technical-limitations

OMIM

516001

Clinvar variants

Variants in MT-ND2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Dec 2025, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag technical-limitations tag was added to gene: MT-ND2.

11 Dec 2025, Gel status: 2

Removed Tag, Removed Tag, Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: MT-ND2. Tag Q2_25_expert_review was removed from gene: MT-ND2. Tag Q2_25_ NHS_review was removed from gene: MT-ND2.

25 Jun 2025, Gel status: 2