Genomics England

PDSS2

decaprenyl diphosphate synthase subunit 2

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 COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652
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 Coenzyme Q10 deficiency, primary, 3, 614652, COENZYME Q10 DEFICIENCY, PRIMARY, 3
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 Coenzyme Q10 deficiency, primary, 3, 614652, Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Disorders of ubiquinone metabolism and biosynthesis
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of ubiquinone metabolism and biosynthesis, Coenzyme Q10 deficiency, primary, 3, 614652
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652
Green in Proteinuric renal disease R-numbers: R195 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 3 #614652, Leigh syndrome