Hereditary Neuropathy - complex
Gene: COA7

COA7 (cytochrome c oxidase assembly factor 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000162377
EnsemblGeneIds (GRCh37): ENSG00000162377
OMIM: 615623, Gene2Phenotype
COA7 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated individuals reported with bi-allelic variants in this gene. Slowly progressive condition with variable onset, but at least three individuals presented at <5 years of age.
Sources: Literature
Created: 28 Dec 2019, 12:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387

Publications

Created: 28 Dec 2019, 12:38 a.m.

Panel version: Imported from Peripheral Neuropathy_CMT panel version 0.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital
Expert Review Green
Literature

Phenotypes

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy

OMIM

615623

Clinvar variants

Variants in COA7

Penetrance

None

Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COA7 was added gene: COA7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy

Hereditary Neuropathy - complex Gene: COA7