Paediatric or syndromic cardiomyopathy
Gene: NDUFAF3
NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 12 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:32 a.m. | Last Modified: 8 Mar 2022, 11:32 a.m.
Panel Version: 1.67
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green 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: NDUFAF3; 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 18, 618240
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- MetBioNet
- NHS GMS
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 18, 618240
- OMIM
- 612911
- Clinvar variants
- Variants in NDUFAF3
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorder with complex I deficiency
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Inherited white matter disorders
- Optic neuropathy
History Filter Activity
8 Mar 2022, Gel status: 2
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to NDUFAF3. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
9 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NDUFAF3 was added gene: NDUFAF3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency, nuclear type 18, 618240