Optic neuropathy
Gene: MT-ND4EnsemblGeneIds (GRCh38): ENSG00000198886
EnsemblGeneIds (GRCh37): ENSG00000198886
OMIM: 516003, Gene2Phenotype
MT-ND4 is in 8 panels
3 reviews
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/412Created: 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.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- London North GLH
- Expert Review Green
- UKGTN
- Phenotypes
-
- Leber's hereditary optic neuropathy
- Tags
- OMIM
- 516003
- Clinvar variants
- Variants in MT-ND4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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-ND4.
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-ND4.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ND4.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source London North GLH was added to MT-ND4. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND4 were set to 26448634; 20301353; 27159682; 26683077; 23805034; 23665487; 22553750
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND4 were set to 26448634; 20301353; 27159682; 26683077; 23805034; 23665487
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND4 were set to 26448634; 20301353; 27159682; 26683077;23805034
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MT-ND4 was changed to MITOCHONDRIAL
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND4 were set to 26448634; 20301353; 27159682;26683077
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ND4 were set to Leber's hereditary optic neuropathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND4 were set to 26448634; 20301353;27159682
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND4 were set to 26448634;20301353
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ND4 were set to
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND4 were set to 26448634
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ND4 were set to Retinal degeneration and nystagmus
Added New Source
GEL ()MT-ND4 was added to Inherited optic neuropathies panel. Sources: UKGTN