CACNA1C

calcium voltage-gated channel subunit alpha1 C
OMIM: 114205
PanelMode of inheritanceDetails
7 panels
R-numbers: R135
Signed-off version 2.2
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 DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TIMOTHY SYNDROME 601005
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TIMOTHY SYNDROME
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R131
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypertrophic cardiomyopathy, Brugada syndrome 3 611875, Long QT syndrome 8 618447, Timothy syndrome 601005
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Brugada syndrome 3 611875, Timothy syndrome 601005
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R127
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brugada syndrome 3 (611875), Timothy syndrome (601005)
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden unexplained death or survivors of a cardiac event
R-numbers: R130
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brugada syndrome 3 611875, syncope, brugada syndrome, scd, Brugada syndrome 3 (611875), short qt, Timothy syndrome (601005)