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  3. CACNA1C
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Fetal anomalies

Gene: CACNA1C

Green List (high evidence)
CACNA1C (calcium voltage-gated channel subunit alpha1 C)
EnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association with Long QT syndrome and with Timothy syndrome. Both can present with antenatal arrhythmias, and in addition Timothy syndrome is associated with congenital anomalies (congenital heart disease and syndactyly).
Created: 11 Nov 2021, 6:46 a.m. | Last Modified: 11 Nov 2021, 6:46 a.m.
Panel Version: 0.365

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447

Publications

Created: 11 Nov 2021, 6:46 a.m.
Last Modified: 11 Nov 2021, 6:46 a.m.
Panel version: 0.365

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Rodan et al. (2021) reported 25 individuals from 22 families with heterozygous truncating and missense variants in CACNA1C. The individuals presented with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy BUT absence of classic features of Timothy syndrome or long QT syndrome. Functional studies of a subgroup of missense variants demonstrated loss of function, neutral effect, and gain of function on channel function in vitro.
Created: 7 Oct 2021, 12:25 a.m. | Last Modified: 7 Oct 2021, 12:25 a.m.
Panel Version: 0.4187

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental abnormalities and epilepsy, no OMIM#

Publications

Created: 7 Oct 2021, 12:25 a.m.
Last Modified: 7 Oct 2021, 12:25 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.4187

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Timothy syndrome, MIM# 601005
  • Long QT syndrome 8, MIM# 618447
OMIM
114205
Clinvar variants
Variants in CACNA1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cacna1c has been classified as Green List (High Evidence).

11 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME to Timothy syndrome, MIM# 601005; Long QT syndrome 8, MIM# 618447

11 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CACNA1C were set to

11 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CACNA1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CACNA1C was added gene: CACNA1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME