Genomics England

CACNA1C

calcium voltage-gated channel subunit alpha1 C

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Congenital hyperinsulinism R-numbers: R144 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes non-syndromic congeital hyperinsulinism, Timothy syndrome, OMIM:601005, Timothy syndrome, MONDO:0010979, CACNA1C-related disorder
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Timothy syndrome, OMIM:601005, Timothy syndrome, MONDO:0010979, CACNA1C-related disorder
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 R-numbers: R59 Signed-off version 5.10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Timothy syndrome OMIM:601005, CACNA1C-related disorder
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Timothy syndrome, OMIM:601005, Timothy syndrome, MONDO:0010979, Long QT syndrome 8, OMIM:618447, long qt syndrome 8, MONDO:0032756, Brugada syndrome 3, OMIM:611875, Brugada syndrome 3, MONDO:0012742, CACNA1C-related disorder
Green in Hypertrophic cardiomyopathy Component of the following Super Panels: - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R131 Signed-off version 4.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hypertrophic cardiomyopathy, Timothy syndrome, OMIM:601005, Timothy syndrome, MONDO:0010979, Long QT syndrome 8, OMIM:618447, long qt syndrome 8, MONDO:0032756, Brugada syndrome 3, OMIM:611875, Brugada syndrome 3, MONDO:0012742, CACNA1C-related disorder
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Timothy syndrome, OMIM:601005, Timothy syndrome, MONDO:0010979, Long QT syndrome 8, OMIM:618447, long qt syndrome 8, MONDO:0032756, Brugada syndrome 3, OMIM:611875, Brugada syndrome 3, MONDO:0012742, CACNA1C-related disorder
Green in Long QT syndrome Component of the following Super Panels: - Cardiac arrhythmias - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R127 Signed-off version 3.8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Timothy syndrome, OMIM:601005, Timothy syndrome, MONDO:0010979, Long QT syndrome 8, OMIM:618447, long qt syndrome 8, MONDO:0032756, Brugada syndrome 3, OMIM:611875, Brugada syndrome 3, MONDO:0012742, CACNA1C-related disorder
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Timothy syndrome, OMIM:601005, Timothy syndrome, MONDO:0010979, Long QT syndrome 8, OMIM:618447, long qt syndrome 8, MONDO:0032756, Brugada syndrome 3, OMIM:611875, Brugada syndrome 3, MONDO:0012742, CACNA1C-related disorder
Green in Short QT syndrome Component of the following Super Panels: - Cardiac arrhythmias - Sudden unexplained death or survivors of a cardiac event - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R130 Signed-off version 3.12	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Timothy syndrome, OMIM:601005, Timothy syndrome, MONDO:0010979, Long QT syndrome 8, OMIM:618447, long qt syndrome 8, MONDO:0032756, Brugada syndrome 3, OMIM:611875, Brugada syndrome 3, MONDO:0012742, Short QT, CACNA1C-related disorder