Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: CACNA1A

Green List (high evidence)

CACNA1A (calcium voltage-gated channel subunit alpha1 A)
EnsemblGeneIds (GRCh38): ENSG00000141837
EnsemblGeneIds (GRCh37): ENSG00000141837
OMIM: 601011, Gene2Phenotype
CACNA1A is in 24 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: De novo missense variants implicated in EIEE. Note that CACNA1A is responsible for other neurological phenotypes, including familial hemiplegic migraine caused by missense variants. However episodic ataxia / SCA6 are caused by a triplet repeat and therefore incidental findings of this nature would not be expected to be tiered.
Created: 18 Dec 2017, 2:38 p.m.
Comment on mode of pathogenicity: De novo missense reported to date
Created: 18 Dec 2017, 2:37 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The clinical features of epileptic encephalopathy, early infantile, 42 617106 include developmental delay and moderate to severe intellectual disability. Associated with phenotype in OMIM and as a possible G2P. Four different misense variants have been reported in five cases (including 2 sibs) of epileptic encephalopathy, early infantile, 42 617106. All were de novo except for the variant in the sibblings, which resulted from maternal somatic mosaicism.
Created: 15 Dec 2017, 9:38 a.m.

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

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EPILEPTIC ENCEPHALOPATHY

Publications

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_2_4_2017;in_gilissen_2014_known;in_omim_20150205_movement;in_UKGTN_v12 . Main mutation mechanism : All missense/in frame
Created: 27 Jul 2017, 5:14 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; gilissen_2014_known; omim_20150205_movement; UKGTN_v12; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; All missense/in frame. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:08 p.m.

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

Publications

Mode of pathogenicity
Other

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

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 CACNA1A. Panel: Intellectual disability Model of inheritance for gene CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CACNA1A was set to ['24896178', ' 27476654']

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: 0

Created

Ellen McDonagh (Genomics England Curator)

CACNA1A was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1A was added to Intellectual disabilitypanel. Sources: Expert Review Red