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  2. BRIDGE_SPEED_NEURO_20170705
  3. MT-ND1
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BRIDGE_SPEED_NEURO_20170705

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

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: 28 Jul 2017, 9:39 a.m.

Mode of inheritance
MT

Publications

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

Created: 2 Aug 2017, 5:07 p.m.

Panel version: 0.191

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • LEBER OPTIC ATROPHY
  • ALZHEIMER DISEASE
  • SIDS
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • DYSTONIA, ADULT-ONSET
  • MELAS
OMIM
516000
Clinvar variants
Variants in MT-ND1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for MT-ND1 was changed to MITOCHONDRIAL

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

MT-ND1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

MT-ND1 was created by LouiseD