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Leber hereditary optic neuropathy

Gene: MT-ND4

Green List (high evidence)

MT-ND4 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000198886
EnsemblGeneIds (GRCh37): ENSG00000198886
OMIM: 516003, Gene2Phenotype
MT-ND4 is in 10 panels

3 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mitochondrial - cannot be tested in panel with nuclear genes
Created: 19 Mar 2019, 3:33 p.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Leber's hereditary optic neuropathy

Publications

Ellen Thomas (Genomics England Curator)

Comment on list classification: This is a major cause of Leber hereditary optic neuropathy. There are likely to be modifiers but this still represents the major explanation in many patients.
Created: 11 Sep 2016, 9:11 a.m.

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:49 a.m.
Comment on list classification: Variants in other mitochondrial genes may be interplay to modify disease (PMID: 23805034, 23665487, 22553750).
Created: 7 Sep 2016, 9:16 a.m.

History Filter Activity

16 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: MT-ND4 was added gene: MT-ND4 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL Publications for gene: MT-ND4 were set to 26448634; 27159682; 23665487; 23805034; 26683077; 22553750; 20301353 Phenotypes for gene: MT-ND4 were set to Leber's hereditary optic neuropathy