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Hereditary neuropathy NOT PMP22 copy number

Gene: COX20

No list

COX20 (COX20, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000203667
EnsemblGeneIds (GRCh37): ENSG00000203667
OMIM: 614698, Gene2Phenotype
COX20 is in 13 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Well established association with mitochondrial disease, presentation with neuropathy reported PMID 33751098
Sources: Literature
Created: 11 Oct 2021, 9:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal



Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Oct 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: COX20 was added gene: COX20 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX20 were set to 33751098 Phenotypes for gene: COX20 were set to Neuropathy Review for gene: COX20 was set to GREEN gene: COX20 was marked as current diagnostic