Paediatric or syndromic cardiomyopathy
Gene: NDUFAF6
NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156170
EnsemblGeneIds (GRCh37): ENSG00000156170
OMIM: 612392, Gene2Phenotype
NDUFAF6 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000156170
EnsemblGeneIds (GRCh37): ENSG00000156170
OMIM: 612392, Gene2Phenotype
NDUFAF6 is in 9 panels
3 reviews
Ivone Leong (Genomics England Curator)
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: NDUFAF6; 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 17, 612392
Sarah Leigh (Genomics England Curator)
Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel, including new publicationsCreated: 21 Mar 2017, 12:56 p.m.
Comment on mode of inheritance: mitochondrialCreated: 21 Mar 2017, 12:55 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- MetBioNet
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 17, 612392
- OMIM
- 612392
- Clinvar variants
- Variants in NDUFAF6
- Penetrance
- None
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex I deficiency
- Likely inborn error of metabolism
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
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 NDUFAF6. 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 Phenotypes
Ivone Leong (Genomics England Curator)gene: NDUFAF6 was added gene: NDUFAF6 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF6 were set to Mitochondrial complex I deficiency, nuclear type 17, 612392