Paediatric or syndromic cardiomyopathy
Gene: COA5
?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 OMIM#616500Created: 25 Mar 2019, 4:30 p.m.
AR cardiomyopathy encephalopathy: HGMD only 1 variant: CM112438 Hypertrophic cardiomyopathy, fatal neonatal DM COA5 The A53P substitution does not exhibit a shift in polarity and displays a decrease in Kyte-Doolittle hydrophobicity from 1.8 to -1.6. Approximately 0.88% of missense mutations in HGMD are Ala-Pro. The mutation occurs 22 amino acids from the end of the protein. Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: COA5; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 1 reported family (2 sibs) with functional studiesCreated: 10 May 2019, 11:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 11:17 a.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 11:35 a.m.
Comment when marking as ready: Does not seem to be enough evidence at the current time for this gene to be green.Created: 26 Feb 2016, 4:04 p.m.
Comment on list classification: Only one family report, a possible DD gene, has a question mark by the phenotype in OMIM as only seen in one family.Created: 26 Feb 2016, 4:02 p.m.
aka C2orf64;
single mutation report in literature - two siblings, born of consanguineous Turkish parents, affected by fatal neonatal cardiomyopathyCreated: 4 Feb 2016, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to COA5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: COA5 was added gene: COA5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Amber,South West GLH Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA5 were set to 27604308 Phenotypes for gene: COA5 were set to Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); syndromic HCM; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3