Rhabdomyolysis and Metabolic Myopathy

Gene: SCO2

Green List (high evidence)

SCO2 (SCO2, cytochrome c oxidase assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000130489
EnsemblGeneIds (GRCh37): ENSG00000130489
OMIM: 604272, Gene2Phenotype
SCO2 is in 16 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated cases with myopathy as feature of the condition
Sources: Expert Review
Created: 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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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 family
Created: 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

History Filter Activity

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sco2 has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sco2 has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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