Hereditary Neuropathy_CMT - isolated

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)

Now 6 individuals from 4 families with compound heterozygous or homozygous missense variants (p.Glu140Lys and p.Pro169Thr; p.Arg171Gln and p.Asp135Gly; p.Arg255Trp; p.Gly121Arg) and an axonal CMT phenotype without the fatal infantile cardioencephalomyopathy phenotype also associated with SCO2 deficiency.
Created: 4 Mar 2022, 12:31 a.m. | Last Modified: 4 Mar 2022, 12:31 a.m.
Panel Version: 1.13
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
autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850

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

4 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Mar 2022, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SCO2 were set to 29351582

4 Mar 2022, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SCO2 were changed from Charcot-Marie-Tooth disease type 4; dHMN/dSMA to autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850

11 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sco2 has been classified as Amber List (Moderate Evidence).

11 May 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCO2 were changed from ?Charcot-Marie-Tooth disease type 4; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; dHMN/dSMA to Charcot-Marie-Tooth disease type 4; dHMN/dSMA

11 May 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCO2 were set to

13 Jan 2020, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCO2 was added gene: SCO2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO2 were set to ?Charcot-Marie-Tooth disease type 4; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; dHMN/dSMA