Genomics England

COX7B

cytochrome c oxidase subunit 7B

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes MICROPHTHALMIA WITH LINEAR SKIN LESIONS
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	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 in Mitochondrial disorder with complex IV deficiency R-numbers: R356 Signed-off version 3.20	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	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
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Linear skin defects with multiple congenital anomalies 2, OMIM:300887
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887