Rhabdomyolysis and Metabolic Myopathy
Gene: SCO2
>3 unrelated cases with myopathy as feature of the condition
Sources: Expert ReviewCreated: 24 Feb 2020, 8:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MIM#604377
Publications
PMID 26427993 - gene association to myopia disputed, carriers of pathogenic variants show no myopia, authors acknowledge it could be due to low penetrence
PMID: 29351582: Charcot-Marie-Tooth type 4 - AR, 2 families
PMID: 31844624: Cerebellar ataxia and progressive peripheral axonal neuropthy - AR, single familyCreated: 7 Feb 2020, 5:49 a.m. | Last Modified: 7 Feb 2020, 5:49 a.m.
Panel Version: 0.1289
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; Myopia 6; Charcot-Marie-Tooth type 4; Cerebellar ataxia and progressive peripheral axonal neuropthy
Publications
Gene: sco2 has been classified as Green List (High Evidence).
Gene: sco2 has been classified as Green List (High Evidence).
gene: SCO2 was added gene: SCO2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 23719228 Phenotypes for gene: SCO2 were set to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 gene: SCO2 was marked as current diagnostic