Optic neuropathy
Gene: MT-ND5

MT-ND5 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000198786
EnsemblGeneIds (GRCh37): ENSG00000198786
OMIM: 516005, Gene2Phenotype
MT-ND5 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)

Green List (high evidence)

Comment on list classification: As reviewed by Katherine Schon, there is sufficient evidence available for the association of MT-ND5 gene with LHON. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 25 Jun 2025, 5:15 p.m. | Last Modified: 25 Jun 2025, 5:15 p.m.

Panel Version: 5.18

PMID:12509858 - Two patients with MELAS syndrome were reported with novel heteroplasmic variants, of which one patient had m.13045A>C transversion. This patient presented with MELAS/ Leber's hereditary optic neuropathy (LHON)/ Leigh's overlap syndrome.

PMID:12736867 - The complete mitochondrial DNA sequences were determined for 63 Dutch pedigrees with LHON, of which 56 harboured one of the three classic LHON variants. The m.13051G>A was identified in one of the seven remaining families.

PMID:27164671 - Two different families and a singleton case were reported to harbour the m.13051G>A variant. LHON, optic atrophy or bilateral optic disc pallor were reported in these patients.

PMID:38357617 - A 24-year-old female of Japanese descent was reported with LHON and the same m.13051G>A variant.
Created: 25 Jun 2025, 5:13 p.m. | Last Modified: 25 Jun 2025, 5:13 p.m.

Panel Version: 5.15

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Leber hereditary optic neuropathy, MONDO:0010788

Publications

Created: 25 Jun 2025, 5:13 p.m.
Last Modified: 25 Jun 2025, 5:13 p.m.
Panel version: 5.15

Katherine Schon (University of Cambridge)

Green List (high evidence)

Rare LHON variants are found in MT-ND5: m.13051G>A, m.13094T>C.
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

516005

Clinvar variants

Variants in MT-ND5

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-ND5.

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-ND5. Tag Q2_25_expert_review was removed from gene: MT-ND5. Tag Q2_25_ NHS_review was removed from gene: MT-ND5.

25 Jun 2025, Gel status: 2