Adult onset dystonia, chorea or related movement disorder
Gene: COX15EnsemblGeneIds (GRCh38): ENSG00000014919
EnsemblGeneIds (GRCh37): ENSG00000014919
OMIM: 603646, Gene2Phenotype
COX15 is in 16 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: Leigh syndrome - infancy/early childhood onsetCreated: 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
-
- Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
- OMIM
- 603646
- Clinvar variants
- Variants in COX15
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex IV deficiency
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to COX15. 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 COX15.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to COX15.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: COX15 were changed from to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: COX15 was added gene: COX15 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal