COX7B

cytochrome c oxidase subunit 7B
OMIM: 300885, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green COX7B in Mendeliome Version 1.1891	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 2, MIM#300887
Green COX7B in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Amber COX7B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Expert Review Amber Genetic Health Queensland Phenotypes Linear skin defects with multiple congenital anomalies 2, MIM#300887
Amber COX7B in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources MetBioNet Expert Review Amber NHS GMS Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887
Green COX7B in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Linear skin defects with multiple congenital anomalies 2, MIM#300887