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  2. BRIDGE_SPEED_NEURO_20170705
  3. CACNA1S
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BRIDGE_SPEED_NEURO_20170705

Gene: CACNA1S

Green List (high evidence)
CACNA1S (calcium voltage-gated channel subunit alpha1 S)
EnsemblGeneIds (GRCh38): ENSG00000081248
EnsemblGeneIds (GRCh37): ENSG00000081248
OMIM: 114208, Gene2Phenotype
CACNA1S is in 9 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_UKGTN_v12 . Main mutation mechanism : NA
Created: 28 Jul 2017, 8:51 a.m.

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

Publications

  • Version 12 ukgtn.nhs.uk

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: 0.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Hypokalemic periodic paralysis, type 1, 170400
  • {Malignant hyperthermia susceptibility 5}, 601887
  • {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580
OMIM
114208
Clinvar variants
Variants in CACNA1S
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CACNA1S were set to Hypokalemic periodic paralysis, type 1, 170400; {Malignant hyperthermia susceptibility 5}, 601887; {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CACNA1S 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)

CACNA1S was created by LouiseD