Genes in panel
STRs in panel
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Inborn errors 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 12 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

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

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

History Filter Activity

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