Paediatric or syndromic cardiomyopathy
Gene: NDUFA10EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 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: NDUFA10; 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 22, 618243
Shamima Rahman (UCL Institute of Child Health)
only one patient reported in literature to dateCreated: 3 Feb 2016, 4:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- MetBioNet
- NHS GMS
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 22, 618243
- OMIM
- 603835
- Clinvar variants
- Variants in NDUFA10
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Optic neuropathy
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to NDUFA10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NDUFA10 was added gene: NDUFA10 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243