Adult onset dystonia, chorea or related movement disorder
Gene: MT-ND1
MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 19 Sep 2019, 1:49 p.m. | Last Modified: 19 Sep 2019, 1:49 p.m.
Panel Version: 0.108
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: additonal review from Prof Huw Morris : I would suggest not including mitochondrial genes (although many can cause dystonia parkinsonsim) but rather including on the reports something along the lines:Concurrent CPEO, myopathy, neuropathy, optic atrophy may suggest a mitochondria disorder in a patient with ataxia, Parkinsonism or dystonia. Muscle biopsy, enzyme analysis and analysis of the mitochindrial gene panel may be usefulCreated: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- OMIM
- 516000
- Clinvar variants
- Variants in MT-ND1
- Penetrance
- None
- Panels with this gene
-
- Optic neuropathy
- Sudden death in young people
- Structural basal ganglia disorders
- Retinal disorders
- Likely inborn error of metabolism
- Intellectual disability
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
18 Oct 2023, Gel status: 1
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.
12 Sep 2023, Gel status: 1
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.
19 Sep 2019, Gel status: 1
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: mt-nd1 has been classified as Red List (Low Evidence).
23 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MT-ND1.
23 Apr 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to MT-ND1.
3 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: MT-ND1 was added gene: MT-ND1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL