Optic neuropathy
Gene: MT-ND1EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 11 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mitochondrial - cannot be tested in panel with nuclear genesCreated: 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.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- London North GLH
- Expert Review Green
- UKGTN
- Phenotypes
-
- Optic neuropathy and nystagmus
- External ophthalmoplegia
- Leber's hereditary optic neuropathy
- Tags
- OMIM
- 516000
- Clinvar variants
- Variants in MT-ND1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Optic neuropathy
- Leber hereditary optic neuropathy
- Undiagnosed metabolic disorders
- Sudden death in young people
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Retinal disorders
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-ND1.
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-ND1.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ND1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source London North GLH was added to MT-ND1. 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 McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND1 were set to 26448634; 27449621; 20301353; 27177320; 24884847; 24800637; 23665487
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND1 were set to 26448634; 27449621; 20301353; 27177320; 24884847;24800637
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND1 were set to 26448634; 27449621; 20301353; 27177320;24884847
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND1 were set to 26448634; 27449621; 20301353;27177320
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND1 were set to 26448634; 27449621;20301353
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND1 were set to 26448634;27449621
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ND1 were set to Optic neuropathy and nystagmus; External ophthalmoplegia;Leber's hereditary optic neuropathy
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ND1 were set to Optic neuropathy and nystagmus;External ophthalmoplegia
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ND1 were set to Optic neuropathy and nystagmus
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MT-ND1 were set to 26448634
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MT-ND1 was changed to MITOCHONDRIAL
Added New Source
GEL ()MT-ND1 was added to Inherited optic neuropathies panel. Sources: UKGTN