PanelApp (staging)
  1. Genes and Genomic Entities
  2. CACNA1S

CACNA1S

calcium voltage-gated channel subunit alpha1 S
OMIM: 114208, ClinGen, DECIPHER

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green CACNA1S in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM #620246

Red CACNA1S in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypokalemic periodic paralysis, type 1, MIM# 170400

    Green CACNA1S in Incidentalome


    Version 0.318

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    • Victorian Clinical Genetics Services
    Phenotypes
    • Malignant hyperthermia susceptibility 5, MIM# 601887
    Tags
    • review

    Green CACNA1S in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital myopathy MONDO:0019952

    Green CACNA1S in Additional findings_Adult


    Level 2: Screening
    Version 0.169

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Malignant hyperthermia susceptibility 5, MIM# 601887

    Green CACNA1S in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.141

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Children's Hospital Neurology Department
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypokalemic periodic paralysis, type 1, MIM# 170400

    Green CACNA1S in Skeletal Muscle Channelopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Malignant hyperthermia susceptibility type 5
    • Hypokalemic periodic paralysis, type 1, 170400

    Green CACNA1S in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  4 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • {Malignant hyperthermia susceptibility 5}, 601887

    Green CACNA1S in Pharmacogenomics_Paediatric


    Level 2: Screening
    Version 0.50

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Malignant hyperthermia susceptibility 5}, MIM# 601887

    Red CACNA1S in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Malignant hyperthermia

    Green CACNA1S in Malignant Hyperthermia Susceptibility


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.8

    Component of the following Super Panels:

  • Myopathy Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Malignant hyperthermia susceptibility 5} MIM#601887

    Green CACNA1S in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		1 review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green CACNA1S in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Malignant hyperthermia susceptibility 5, MIM# 601887
    Tags
    • pharmacogenomic

    Green CACNA1S in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.17

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_AldoHypertension v38.1.0
    Phenotypes
    • Hypokalemic periodic paralysis, type 1, MIM# 170400

    Green CACNA1S in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Malignant hyperthermia susceptibility 5, MIM# 601887