CACNA1C

calcium voltage-gated channel subunit alpha1 C
OMIM: 114205
PanelMode of inheritanceDetails
9 panels
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Timothy syndrome, OMIM:601005, Timothy syndrome, MONDO:0010979, CACNA1C-related disorder
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Timothy syndrome OMIM:601005, CACNA1C-related disorder
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
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 4.8
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
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
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 3.7
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
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
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
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 3.11
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