PanelApp (test)
  1. Genes and Genomic Entities
  2. KCNA1

KCNA1

potassium voltage-gated channel subfamily A member 1
OMIM: 176260, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Amber KCNA1 in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 0.57

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia/myokymia syndrome, MIM# 160120

Green KCNA1 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Episodic ataxia/myokymia syndrome, MIM# 160120

    Green KCNA1 in Mendeliome


    Version 1.1902

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Episodic ataxia/myokymia syndrome, MIM# 160120
    • Epilepsy, MONDO:0005027, KCNA1-related

    Green KCNA1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epilepsy
    • seizures
    • epileptic encephalopathies
    • episodic ataxia type 1 and epilepsy

    Green KCNA1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green KCNA1 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel

    		•  review Unknown
    Sources
    • Royal Children's Hospital Neurology Department
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green KCNA1 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • EPISODIC ATAXIA, TYPE 1
    • myokymia with periodic ataxia
    • Episodic ataxia/myokymia syndrome, 160120
    • Episodic ataxia/myokymia syndrome

    Green KCNA1 in Skeletal Muscle Channelopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • EA1
    • Episodic ataxia/myokymia syndrome, 160120
    • Myokymia
    • Episodic Ataxia
    • Episodic Ataxia, Type 1

    Green KCNA1 in Episodic Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

    Component of the following Super Panels:

  • Ataxia_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Episodic ataxia/myokymia syndrome MIM#160120
    • EA1

    Green KCNA1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Episodic ataxia type 1

    Red KCNA1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Episodic ataxia/myokymia syndrome, MIM# 160120

    Green KCNA1 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.14

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • KidGen_Magnesium v38.1.0
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Epilepsy, MONDO:0005027, KCNA1-related
    • Episodic ataxia/myokymia syndrome, MIM# 160120