Adult onset neurodegenerative disorder
Gene: COX20
Cytochrome c oxidase deficiency is clinically heterogeneous, ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood. Single patient reported - Turkish boy with growth retardation, hypotonia, and cerebellar ataxia. Two Turkish sibs with same variant as the other case (T52P) - childhood-onset cerebellar ataxia, dystonia, and sensory axonal neuropathy. The brother developed cerebellar ataxia at age 12 years, followed by severe leg dystonia resulting in his being wheelchair-bound in his early twenties. Oterop et al report 4 more cases. - childhood onset so red?Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
Publications
Childhood onsetCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, 220110
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames 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, 5:35 p.m.
Source Expert Review Red was added to COX20. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to COX20.
Source Yorkshire and North East GLH was added to COX20.
Source NHS GMS was added to COX20.
Source London North GLH was added to COX20.
Louise Daugherty: Comment on phenotypes: amended
Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
gene: COX20 was added gene: COX20 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal