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Cardiomyopathies - including childhood onset

Gene: NDUFA6

Red List (low evidence)

NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6)
EnsemblGeneIds (GRCh38): ENSG00000184983
EnsemblGeneIds (GRCh37): ENSG00000184983
OMIM: 602138, Gene2Phenotype
NDUFA6 is in 7 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 4 unrelated cases reported with functional studies
Created: 10 May 2019, 9:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 33, 618253

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been promoted to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. PMID: 30245030 reports four unrelated children who presented with neuroradiological findings and/or elevated lactate levels, with biallelic variants in this gene, plus functional studies.
Created: 10 May 2019, 10:03 a.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 10:52 a.m.

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFA6; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 33, 618253

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)

Created: 4 Feb 2016, 7:03 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 33, 618253
OMIM
602138
Clinvar variants
Variants in NDUFA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to NDUFA6. Rating Changed from Green List (high evidence) to Red List (low evidence)

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: NDUFA6 was added gene: NDUFA6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA6 were set to 30245030 Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, 618253