Likely inborn error of metabolism
Gene: COA7

COA7 (cytochrome c oxidase assembly factor 7 (putative))
EnsemblGeneIds (GRCh38): ENSG00000162377
EnsemblGeneIds (GRCh37): ENSG00000162377
OMIM: 615623, Gene2Phenotype
COA7 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Several unrelated cases and functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex IV deficiency (Version 0.40).
Created: 23 May 2019, 1:19 p.m.

Created: 23 May 2019, 1:19 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.309

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
NHS GMS

Phenotypes

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770

OMIM

615623

Clinvar variants

Variants in COA7

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COA7 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770

6 Aug 2019, Gel status: 3

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