Paediatric or syndromic cardiomyopathy
Gene: NDUFAF5
NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)
EnsemblGeneIds (GRCh38): ENSG00000101247
EnsemblGeneIds (GRCh37): ENSG00000101247
OMIM: 612360, Gene2Phenotype
NDUFAF5 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000101247
EnsemblGeneIds (GRCh37): ENSG00000101247
OMIM: 612360, Gene2Phenotype
NDUFAF5 is in 10 panels
3 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: NDUFAF5; 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 16, 616238
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: PMID: 19542079 and PMID: 18940309 both report homozygous mutations in this gene.Created: 8 Feb 2016, 2:48 p.m.
Comment on list classification: Reviews suggest this should be promoted from amber to green.Created: 8 Feb 2016, 2:44 p.m.
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 16, 616238
- OMIM
- 612360
- Clinvar variants
- Variants in NDUFAF5
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
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 NDUFAF5. 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: NDUFAF5 was added gene: NDUFAF5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 616238