Intellectual disability update Jan 2018
Gene: COA5

COA5 (cytochrome c oxidase assembly factor 5)
EnsemblGeneIds (GRCh38): ENSG00000183513
EnsemblGeneIds (GRCh37): ENSG00000183513
OMIM: 613920, Gene2Phenotype
COA5 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: In OMIM this gene is associated with ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500. No mention of intellectual disability phenotypes. In Gene2Phenotype COA5 is listed as a DD gene with possible association with MITOCHONDRIAL COMPLEX IV DEFICIENCY and Intellectual disability is one of the phenotypes. No publication associated with this. OMIM doesn't have COA5 associated with this disease.
Created: 28 Feb 2018, 6:20 p.m.

Created: 28 Feb 2018, 6:20 p.m.

Panel version: 0.206

Details

Sources

Expert Review Red

Phenotypes

?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
MITOCHONDRIAL COMPLEX IV DEFICIENCY

OMIM

613920

Clinvar variants

Variants in COA5

Penetrance

None

Panels with this gene

History Filter Activity

28 Feb 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for COA5 were set to ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500; MITOCHONDRIAL COMPLEX IV DEFICIENCY

28 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COA5 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red