This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: NDUFA2
NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)
EnsemblGeneIds (GRCh38): ENSG00000131495
EnsemblGeneIds (GRCh37): ENSG00000131495
OMIM: 602137, Gene2Phenotype
NDUFA2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000131495
EnsemblGeneIds (GRCh37): ENSG00000131495
OMIM: 602137, Gene2Phenotype
NDUFA2 is in 13 panels
1 review
Emily Jones (North Bristol NHS Trust)
PMID 18513682 describes a single patient with Leigh Syndrome (but no mention of dystonia). PMID 28857146 describes a further patient with leukoencephalopathy. PMID 27159321 found a VUS in patient with white matter abnormalityCreated: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 13
- OMIM
- 602137
- Clinvar variants
- Variants in NDUFA2
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Mitochondrial disorder with complex I deficiency
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Inherited white matter disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 13 for gene: NDUFA2
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to NDUFA2.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: NDUFA2 was added gene: NDUFA2 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: NDUFA2 was set to