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Leber hereditary optic neuropathy

Gene: MT-ND1

Green List (high evidence)

MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 12 panels

2 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
Optic neuropathy and nystagmus; External ophthalmoplegia; Leber's hereditary optic neuropathy

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 unrelated cases reported.
Created: 7 Sep 2016, 8:53 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-ND1 was added gene: MT-ND1 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL Publications for gene: MT-ND1 were set to 26448634; 24884847; 27449621; 23665487; 24800637; 27177320; 20301353 Phenotypes for gene: MT-ND1 were set to Leber's hereditary optic neuropathy; External ophthalmoplegia; Optic neuropathy and nystagmus