CACNA1C

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

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green CACNA1C in Autism Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red CACNA1C in Brugada syndrome Level 2: Cardiovascular disorders Version 1.0	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags disputed
Green CACNA1C in Hypertrophic cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related
Amber CACNA1C in Hyperinsulinism Level 2: Endocrine disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Hyperinsulinism, MONDO:0002177, CACNA1C-related Timothy syndrome, MIM# 601005
Green CACNA1C in Incidentalome Version 1.0	2 reviews	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 1.0	1 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 2.0	1 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 2.0	1 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 2.0	2 reviews	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 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Expert Review Green NHS GMS
Amber CACNA1C in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	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 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Timothy syndrome MIM#601005
Green CACNA1C in Fetal anomalies Version 2.0	2 reviews	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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene BeginNGS Phenotypes Timothy syndrome, MIM# 601005 Brugada syndrome Long QT syndrome 8, MIM# 618447
Green CACNA1C in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	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