CACNA1C

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green CACNA1C in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red CACNA1C in Brugada syndrome Level 2: Cardiovascular disorders Version 0.34 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags disputed
Amber CACNA1C in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 0.178 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related
Green CACNA1C in Incidentalome Version 0.301	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Hypertrophic cardiomyopathy congenital heart defects conduction abnormalities Timothy syndrome, MIM# 601005 Long QT syndrome 8, MIM# 618447 Tags cardiac review
Green CACNA1C in Long QT Syndrome Level 2: Cardiovascular disorders Version 0.61 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 8, MIM# 618447 Timothy syndrome, MIM# 601005
Red CACNA1C in Short QT syndrome Level 2: Cardiovascular disorders Version 1.7 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Short QT syndrome Tags disputed
Green CACNA1C in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029
Green CACNA1C in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029
Green CACNA1C in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS
Amber CACNA1C in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Brugada syndrome
Green CACNA1C in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Timothy syndrome MIM#601005
Green CACNA1C in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Timothy syndrome, MIM# 601005 Long QT syndrome 8, MIM# 618447
Amber CACNA1C in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber BeginNGS Phenotypes Timothy syndrome, MIM# 601005 Brugada syndrome Long QT syndrome 8, MIM# 618447
Green CACNA1C in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Long QT syndrome 8, MIM# 618447 Timothy syndrome, MIM# 601005