Optic neuropathy

Gene: MT-ND6

Green List (high evidence)

MT-ND6 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 16 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 hereditary optic neuropathy; Nystagmus; severe infantile-onset complex I deficiency

Publications

Ellen Thomas (Genomics England Curator)

Comment on list classification: This is a major cause of LHON.
Created: 11 Sep 2016, 9:12 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Variants often reported in combination with variants in other mitochondrial genes in patients with optic neuropathy e.g. PMID: 26448634, 24884847, 24417559. Variants reported in this gene in both Europeans and Southeast Asian with Leber hereditary optic neuropathy. Identified in 3 patients with Nystagmus in PMID: 26448634.
Created: 7 Sep 2016, 9:33 a.m.

History Filter Activity

18 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND6.

12 Sep 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND6.

3 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: MT-ND6.

19 Mar 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source London North GLH was added to MT-ND6. Rating Changed from Green List (high evidence) to Green List (high evidence)

13 Sep 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Sep 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MT-ND6 were set to Leber hereditary optic neuropathy; Nystagmus;severe infantile-onset complex I deficiency

7 Sep 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MT-ND6 were set to 26448634; 24884847; 24417559; 24398099

7 Sep 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MT-ND6 were set to 26448634; 24884847; 24417559

7 Sep 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MT-ND6 were set to Leber hereditary optic neuropathy; Nystagmus

7 Sep 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MT-ND6 were set to 26448634

7 Sep 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Sep 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MT-ND6 was changed to MITOCHONDRIAL

7 Sep 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MT-ND6 was changed to MITOCHONDRIAL

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MT-ND6 was added to Inherited optic neuropathies    panel. Sources: UKGTN