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Intellectual disability

Gene: MT-ND1

Red List (low evidence)

MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 12 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_manual . Main mutation mechanism : NA
Created: 27 Jul 2017, 7:40 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : manual; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:52 p.m.

Mode of inheritance
MT

Publications

  • Manual assessment of Genes of interest from literature searches and personal communication

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on mode of inheritance: added MOI. Comment on phenotypes: added phenotypes from the literature. 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 or other more prominent phenotypes. MT-ND1 is currently Green on all the relevant V1 panels. 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: 12 Mar 2018, 9:47 a.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 12:53 p.m.

Mode of inheritance
MITOCHONDRIAL

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

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Expert Review Amber
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
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to MT-ND1. Panel: Intellectual disability Model of inheritance for gene MT-ND1 was set to MITOCHONDRIAL

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

MT-ND1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

MT-ND1 was created by BRIDGE