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Intellectual disability

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 10 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 29 Sep 2018, 11:23 p.m.
Created: 29 Sep 2018, 11:23 p.m.

Panel version: 2.503

Helen Brittain (Genomics England Curator)

Comment when marking as ready: ID is a relatively common feature, therefore include. Broader phenotypic spectrum noted.
Created: 18 Dec 2017, 2:40 p.m.
Created: 18 Dec 2017, 2:40 p.m.

Panel version: Imported from Intellectual disability update Dec 2017 panel version 0.33

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a confirmed G2P for Timothy syndrome 601005. At least 3 variants reported in numerous cases. Sudden death frequently occurs in Timothy syndrome 601005 due to cardiac arrest. Mental retardation reported in 25% of cases (PMID 15454078), PMID 28371864 states that Surviving patients seem to have mild developmental delay and learning difficulties.
Created: 15 Dec 2017, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 15 Dec 2017, 9:38 a.m.

Panel version: Imported from Intellectual disability update Dec 2017 panel version 0.13

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
TIMOTHY SYNDROME

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known . Main mutation mechanism : Activating
Created: 27 Jul 2017, 5:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Mode of pathogenicity
Other

Created: 2 Aug 2017, 3:20 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:27 a.m.

Panel version: 0.306

Details

Mode of Inheritance
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
OMIM
114205
Clinvar variants
Variants in CACNA1C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Jun 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 611875; Timothy syndrome 601005 to 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

29 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CACNA1C.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to CACNA1C. Panel: Intellectual disability Model of inheritance for gene CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CACNA1C was set to ['24896178', '15454078', '28371864']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1C was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1C was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen