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Research panel - Severe Paediatric Disorders

Gene: MT-ND1

Green List (high evidence)
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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MT-ND1; Recommended initial gene rating: Green List (high evidence); Phenotypes: LEBER OPTIC ATROPHY; ALZHEIMER DISEASE; SIDS; MITOCHONDRIAL COMPLEX I DEFICIENCY; DYSTONIA, ADULT-ONSET; MELAS; Mode of inheritance: NA
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:22 p.m.
Last Modified: 20 Feb 2020, 5:22 p.m.
Panel version: 0.12

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • MELAS
  • LEBER OPTIC ATROPHY
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • ALZHEIMER DISEASE
  • SIDS
  • DYSTONIA, ADULT-ONSET
OMIM
516000
Clinvar variants
Variants in MT-ND1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2023, Gel status: 3

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: 3

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.

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MT-ND1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY; MELAS; ALZHEIMER DISEASE; DYSTONIA, ADULT-ONSET; LEBER OPTIC ATROPHY; SIDS for gene: MT-ND1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MT-ND1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MT-ND1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MT-ND1 was added gene: MT-ND1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL