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Hereditary neuropathy NOT PMP22 copy number

Gene: SCO2

No list

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

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated cases with compound heterozygous variants and a CMT phenotype. Cardiomyopathy not present.
Sources: Expert list
Created: 2 Apr 2020, 7:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
axonal Charcot-Marie-Tooth disease

Publications

History Filter Activity

2 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SCO2 was added gene: SCO2 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 29351582 Phenotypes for gene: SCO2 were set to axonal Charcot-Marie-Tooth disease Review for gene: SCO2 was set to AMBER