Hereditary Neuropathy_CMT - isolated
Gene: SCO2EnsemblGeneIds (GRCh38): ENSG00000130489
EnsemblGeneIds (GRCh37): ENSG00000130489
OMIM: 604272, Gene2Phenotype
SCO2 is in 16 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
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)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0033850
- OMIM
- 604272
- Clinvar variants
- Variants in SCO2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: sco2 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SCO2 were set to 29351582
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sco2 has been classified as Amber List (Moderate Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SCO2 were set to
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