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Mitochondrial disease

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)

I don't know

Two unrelated cases with compound heterozygous variants and a CMT phenotype. Cardiomyopathy not present.
Created: 23 Mar 2020, 7:18 a.m. | Last Modified: 23 Mar 2020, 7:18 a.m.
Panel Version: 0.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
axonal Charcot-Marie-Tooth disease

Publications

Created: 23 Mar 2020, 7:18 a.m.
Last Modified: 23 Mar 2020, 7:18 a.m.
Panel version: Imported from Mendeliome panel version Imported from Hereditary Neuropathy_CMT - isolated panel version 0.7

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

Created: 7 Feb 2020, 5:49 a.m.
Last Modified: 7 Feb 2020, 5:49 a.m.
Panel version: Imported from Mendeliome panel version 0.1289

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCO2 was added gene: SCO2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SCO2 was set to Unknown