Adult onset dystonia, chorea or related movement disorder
Gene: NDUFA2EnsemblGeneIds (GRCh38): ENSG00000131495
EnsemblGeneIds (GRCh37): ENSG00000131495
OMIM: 602137, Gene2Phenotype
NDUFA2 is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:40 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
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: 23 Apr 2019, 12:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 13
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 13
- OMIM
- 602137
- Clinvar variants
- Variants in NDUFA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Inherited white matter disorders
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
History Filter Activity
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Mitochondrial complex I deficiency, nuclear type 13 for gene: NDUFA2 Publications for gene NDUFA2 were changed from 18513682 to 28857146; 18513682; 27159321
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NDUFA2.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to NDUFA2.
Created, Added New Source, Set mode of inheritance, Set publications
Ellen McDonagh (Genomics England Curator)gene: NDUFA2 was added gene: NDUFA2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA2 were set to 18513682