1. Panels
  2. Newborns main panel
  3. CACNA1C
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: CACNA1C

Amber List (moderate evidence)
CACNA1C (calcium voltage-gated channel subunit alpha1 C)
EnsemblGeneIds (GRCh38): ENSG00000151067
EnsemblGeneIds (GRCh37): ENSG00000151067
OMIM: 114205, Gene2Phenotype
CACNA1C is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36523353 - 20 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Long QT Syndrome 8
OMIM
114205
Clinvar variants
Variants in CACNA1C
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CACNA1C. Added phenotypes Long QT Syndrome 8 for gene: CACNA1C Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CACNA1C. Added phenotypes Long QT Syndrome 8 for gene: CACNA1C Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: CACNA1C.

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: CACNA1C were changed from Long QT Syndrome 8; Timothy Syndrome to Long QT Syndrome 8

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CACNA1C. Added phenotypes Long QT Syndrome 8 for gene: CACNA1C Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CACNA1C. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: CACNA1C.

9 Mar 2023, Gel status: 2

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed was removed from gene: CACNA1C.

9 Mar 2023, Gel status: 2

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag clinical_reviewed tag was added to gene: CACNA1C.

9 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: CACNA1C was added gene: CACNA1C was added to Newborns main panel. Sources: Expert Review Amber 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; Long QT Syndrome 8 Mode of pathogenicity for gene: CACNA1C was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments