Paediatric or syndromic cardiomyopathy
Gene: NDUFA1EnsemblGeneIds (GRCh38): ENSG00000125356
EnsemblGeneIds (GRCh37): ENSG00000125356
OMIM: 300078, Gene2Phenotype
NDUFA1 is in 14 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. Therefore promoted it from Red status to Green.Created: 3 Dec 2019, 1:59 p.m. | Last Modified: 3 Dec 2019, 1:59 p.m.
Panel Version: 0.53
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: NDUFA1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mitochondrial complex I deficiency, nuclear type 12, 301020
Shamima Rahman (UCL Institute of Child Health)
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Multiple studies were the heterozygous mother of the affected male proband was unaffected [PMID: 17262856; 19185523]. One study reports a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].Created: 8 Feb 2016, 2:23 p.m.
Comment on list classification: Expert review suggests this should be promoted from amber.Created: 8 Feb 2016, 2:13 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Amber
- MetBioNet
- NHS GMS
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 12, 301020
- OMIM
- 300078
- Clinvar variants
- Variants in NDUFA1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
- Intellectual disability
- 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
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Optic neuropathy
- Early onset or syndromic epilepsy
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to NDUFA1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to NDUFA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to NDUFA1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NDUFA1 was added gene: NDUFA1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020