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Intellectual disability

Gene: MT-ND4

Red List (low evidence)

MT-ND4 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000198886
EnsemblGeneIds (GRCh37): ENSG00000198886
OMIM: 516003, Gene2Phenotype
MT-ND4 is in 10 panels

4 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: No clear evidence linking mitochondrial point mutations in this gene, with causation of phenotypes appropriate for inclusion on this panel.
Created: 5 Mar 2018, 1:49 p.m.
12707444 reports a 67 year old man with a later onset of features than would be appropriate for this panel. The variant is the same as a reported LHON variant, therefore there is a risk of incidental findings if included. 29340697 demonstrates links between mitochondrial dysfunction (as measured by estimating mitochondrial copy number through assessing the copy number of mitochondrial genes MT-ND4 & MT-ND1) and a cohort with ID/Autism. There is no clear evidence for pathogenic variants in MT-ND4 and causation of ID on the current evidence. Considered red at present.
Created: 5 Mar 2018, 1:48 p.m.

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P. At least 1 variant reported in a 67 year old man with Mitochondrial complex I deficiency and cognitive deficits (PMID 12707444). Copy number losses reported in autism spectrum disorder; intellectual disability cases (PMID 29340697).
Created: 28 Feb 2018, 12:23 p.m.

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_movement_disorder_list . Main mutation mechanism : NA
Created: 27 Jul 2017, 7:40 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : manju_list; 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

  • Personal communication with NIHRBRRD BRIDGE SPEED

Louise Daugherty (Genomics England Curator)

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, 12:54 p.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, 12:51 p.m.

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Red
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex I deficiency
  • autism spectrum disorder
  • intellectual disability
Tags
cnv
OMIM
516003
Clinvar variants
Variants in MT-ND4
Penetrance
Complete
Publications
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, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to MT-ND4. Panel: Intellectual disability Model of inheritance for gene MT-ND4 was set to MITOCHONDRIAL Publications for gene MT-ND4 was set to ['29340697', '12707444']

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

Created

BRIDGE consortium (NIHRBR-RD)

MT-ND4 was created by BRIDGE

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

MT-ND4 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene