This Panel is marked as Internal
Intellectual disability update Jan 2018
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 11 panels
EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 11 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on list classification: Downgraded from Amber to Red after internal clinical review. It was noted that variants of this gene are not a clear cause of primary ID and risks incidental findings if included in an ID cohort, given the typical later onset (e.g. MELAS), so consider this gene to be Red on phenotypic grounds in relation to intellectual disability. It was also noted that currently in PanelApp MT-ND1 is represented on other appropriate panels given the varying presentations of individuals with pathogenic variants.Created: 26 Feb 2018, 5:34 p.m.
Allelic variants of the mitochondrial gene MT-ND1 have been reported in several heterogeneous disorders, including Leber hereditary optic neuropathy, Alzheimer disease Parkinson disease, mitochondrial complex I deficiency, Adult onset Dystonia and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (LELAS).
I am not sure how this fits into ID panel, not only for the above reasons (heterogeneous), but it seems to be more associated to movement disorder phenotype, and when there is a more applicable ID associated phenotype mentioned it is due to stroke /other more prominent phenotypes. MT-ND1 is currently Green on all the relevant V1 oanelshttps://panelapp.genomicsengland.co.uk/panels/genes/MT-ND1Created: 26 Feb 2018, 5:31 p.m.
Comment on phenotypes: added phenotypes from the literatureCreated: 23 Feb 2018, 1:49 p.m.
Comment on mode of inheritance: added MOICreated: 23 Feb 2018, 11:48 a.m.
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- Phenotypes
-
- Leber optic atrophy
- Sudden infant death syndrome
- Mitochondrial complex I deficiency
- Dystonia, adult-onset
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome
- MELAS syndrome
- Deafness, nonsyndromic sensorineural, mitochondrial
- OMIM
- 516000
- Clinvar variants
- Variants in MT-ND1
- Penetrance
- None
- Panels with this gene
-
- Leber hereditary optic neuropathy
- Optic neuropathy
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Sudden death in young people
- Structural basal ganglia disorders
- Retinal disorders
- Likely inborn error of metabolism
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
History Filter Activity
26 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Feb 2018, Gel status: 2
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for MT-ND1 were set to Leber optic atrophy; Sudden infant death syndrome; Mitochondrial complex I deficiency; Dystonia, adult-onset; Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome; MELAS syndrome; Deafness, nonsyndromic sensorineural, mitochondrial
23 Feb 2018, Gel status: 2
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for MT-ND1 was changed from to MITOCHONDRIAL
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)MT-ND1 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)MT-ND1 was created by Ellen McDonagh