Adult onset dystonia, chorea or related movement disorder
Gene: NDUFA10EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency, nuclear type 22 - onset in infancyCreated: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Leigh syndrome
- OMIM
- 603835
- Clinvar variants
- Variants in NDUFA10
- Penetrance
- None
- Publications
- 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
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to NDUFA10. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NDUFA10.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to NDUFA10.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NDUFA10 was added gene: NDUFA10 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA10 were set to 21150889; 28247337; 26741492 Phenotypes for gene: NDUFA10 were set to Leigh syndrome