COX7B

cytochrome c oxidase subunit 7B
OMIM: 300885, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green COX7B in Pigmentary skin disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	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 Other Phenotypes Linear skin defects with multiple congenital anomalies 2, OMIM:300887
No list COX7B in Mosaic skin disorders - deep sequencing Version 2.47 Latest signed off version: v2.0 (30 Nov 2022)	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 Removed London North GLH NHS GMS Phenotypes Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism) Tags curated_removed
Green COX7B in Mitochondrial disorder with complex IV deficiency Version 3.20 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887
Green COX7B in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	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 Literature Phenotypes Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Isolated complex IV deficiency Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887 MICROPHTHALMIA WITH LINEAR SKIN LESIONS Linear skin defects with multiple congenital anomalies
Green COX7B in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources London North GLH NHS GMS Expert Review Green Phenotypes Isolated complex IV deficiency Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) Linear skin defects with multiple congenital anomalies Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887 MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Green COX7B in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887
Red COX7B in Ehlers Danlos syndrome with a likely monogenic cause Level 3: Connective tissues disorders Level 2: Rheumatological disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies, 300887
Green COX7B in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Green COX7B in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887
Amber COX7B in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 Amber Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO
Green COX7B in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.169 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Isolated complex IV deficiency Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887 MICROPHTHALMIA WITH LINEAR SKIN LESIONS Linear skin defects with multiple congenital anomalies
Amber COX7B in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Amber London North GLH Phenotypes Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2, 300887
Amber COX7B in Paediatric or syndromic cardiomyopathy Version 3.47 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	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 Amber MetBioNet NHS GMS Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887
Red COX7B in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green COX7B in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887