Genomics England

CYC1

cytochrome c1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, MC3DN6
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex III deficiency, Mitochondrial complex III deficiency, nuclear type 6, 615453
Green in Mitochondrial disorder with complex III deficiency R-numbers: R355 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 6, 615453
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Isolated complex III deficiency, Mitochondrial complex III deficiency, nuclear type 6, 615453
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex III deficiency, nuclear type 6, 615453