COX14

COX14, cytochrome c oxidase assembly factor
OMIM: 614478, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber COX14 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053
Amber COX14 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
Amber COX14 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053
Amber COX14 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053
Amber COX14 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053