CACNA1C

calcium voltage-gated channel subunit alpha1 C
OMIM: 114205, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red CACNA1C in Genomic imprinting Version 0.149	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature
Green CACNA1C in Congenital hyperinsulinism Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert review Phenotypes non-syndromic congeital hyperinsulinism Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 CACNA1C-related disorder
Green CACNA1C in Hypertrophic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 4.9 Latest signed off version: v4.8 (1 May 2024) 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH Literature 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 CACNA1C in Short QT syndrome Version 3.12 Latest signed off version: v3.11 (1 May 2024) 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources West Midlands, Oxford and Wessex GLH South West GLH London South GLH North West GLH Brugada syndrome (Version 1.7) UKGTN Expert Review Green Long QT syndrome (Version 1.5) Emory Genetics Laboratory Literature 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
Green CACNA1C in Long QT syndrome Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 3.8 Latest signed off version: v3.7 (1 May 2024) 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list 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
Red CACNA1C in Brugada syndrome and cardiac sodium channel disease Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 3.10 Latest signed off version: v3.9 (1 May 2024) 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH Expert Review Red Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Brugada syndrome 3, MONDO:0012742
Green CACNA1C in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green 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 CACNA1C in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 CACNA1C-related disorder
Green CACNA1C in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Timothy syndrome OMIM:601005 CACNA1C-related disorder
Green CACNA1C in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen 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 CACNA1C in Paediatric or syndromic cardiomyopathy Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green 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 CACNA1C in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Brugada syndrome 3, 611875 Long QT syndrome 8, 618447 Timothy syndrome, 601005