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  3. CACNA1A
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BRIDGE_SPEED_NEURO_20170705

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 23 panels

2 reviews

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: 28 Jul 2017, 8:50 a.m.

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

Publications

Mode of pathogenicity
Other

Created: 2 Aug 2017, 1:36 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 9:25 a.m.
Created: 31 Jul 2017, 9:25 a.m.

Panel version: 0.25

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CACNA1A were set to Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CACNA1A was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CACNA1A was created by LouiseD