Optic neuropathy
Gene: MT-ND3

MT-ND3 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000198840
EnsemblGeneIds (GRCh37): ENSG00000198840
OMIM: 516002, Gene2Phenotype
MT-ND3 is in 5 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 m.10197G>A variant from MT-ND3 gene with LHON/ LDYT. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 25 Jun 2025, 3:30 p.m. | Last Modified: 25 Jun 2025, 3:30 p.m.

Panel Version: 5.12

PMID:19458970 - Leber hereditary optic neuropathy and dystonia (LDYT) was reported in 18 patients from a Chinese family. They were identified with m.10197G>A variant (p.Ala47Thr).

PMID:30199507 - A mother and daughter were reported with Leber hereditary optic neuropathy (LHON) and were identified with m.10197G>A variant.

PMID:39923090 - A patient was reported with adult-onset Leigh syndrome (LS) and Leber hereditary optic neuropathy and dystonia (LDYT) and was identified with m.10197G>A variant. His mother also developed vision disturbance, epilepsy, and abnormal gait in her second decade and harboured the same variant. This publication also reviewed previously published cases, and reported a total of 84 participants (78 patients and 6 asymptomatic carriers) harbouring the m.10197G>A variant. LHON and LDYT were reported in 18 and six patients each.
Created: 25 Jun 2025, 12:59 p.m. | Last Modified: 25 Jun 2025, 3:20 p.m.

Panel Version: 5.7

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Leber hereditary optic neuropathy, MONDO:0010788; Leber optic atrophy and dystonia, MONDO:0010772

Publications

Created: 25 Jun 2025, 12:59 p.m.
Last Modified: 25 Jun 2025, 3:20 p.m.
Panel version: 5.10

Katherine Schon (University of Cambridge)

Green List (high evidence)

Rare LHON variants are found in MT-ND3: m.10197G>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
Leber optic atrophy and dystonia, MONDO:0010772

Tags

technical-limitations

OMIM

516002

Clinvar variants

Variants in MT-ND3

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-ND3.

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-ND3. Tag Q2_25_expert_review was removed from gene: MT-ND3. Tag Q2_25_ NHS_review was removed from gene: MT-ND3.

25 Jun 2025, Gel status: 2