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  2. Likely inborn error of metabolism
  3. MT-ND1
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Likely inborn error of metabolism

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 10 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 12:52 p.m.
Created: 10 Feb 2016, 12:52 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.200

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:32 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MELAS SYNDROME
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEBER OPTIC ATROPHY
  • DYSTONIA, ADULT-ONSET
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • SUDDEN INFANT DEATH SYNDROME
Tags
gene-checked
OMIM
516000
Clinvar variants
Variants in MT-ND1
Penetrance
None
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.

4 May 2022, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag gene-checked tag was added to gene: MT-ND1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes MELAS SYNDROME; MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; SUDDEN INFANT DEATH SYNDROME; DYSTONIA, ADULT-ONSET; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL for gene: MT-ND1

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MT-ND1 was added gene: MT-ND1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND1 were set to MELAS SYNDROME; MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; SUDDEN INFANT DEATH SYNDROME; DYSTONIA, ADULT-ONSET; DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL