Genomics England

COQ4

coenzyme Q4

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rhabdomyolysis, Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 7 616276
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green in Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 7, 616276
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276