Hereditary Neuropathy_CMT - isolated
Gene: SCO2
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
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).
Publications for gene: SCO2 were set to 29351582
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
Gene: sco2 has been classified as Amber List (Moderate Evidence).
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
Publications for gene: SCO2 were set to
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