KCNMA1

potassium calcium-activated channel subfamily M alpha 1
OMIM: 600150, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green KCNMA1 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.66

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
  • Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276

Red KCNMA1 in Autism


Version 0.27

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • SFARI

Green KCNMA1 in Paroxysmal central nervous system disorders


Version 1.15
Latest signed off version: v1.14 (16 Dec 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
  • Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276

Red KCNMA1 in DDG2P


Version 2.21
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446

    Red KCNMA1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.159
    Latest signed off version: v2.158 (29 Jun 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert

    Green KCNMA1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert
    Phenotypes
    • Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
    • Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
    • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
    • Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
    • Liang-Wang syndrome, OMIM:618729
    • Liang-Wang syndrome, MONDO:0032886
    • {Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596
    • Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827

    Amber KCNMA1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
    • Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
    • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
    • Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
    • Liang-Wang syndrome, OMIM:618729
    • Liang-Wang syndrome, MONDO:0032886
    • {Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596
    • Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827
    Tags
    • for-review

    Green KCNMA1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
    • Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
    • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
    • Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
    • Liang-Wang syndrome, OMIM:618729
    • Liang-Wang syndrome, MONDO:0032886

    Green KCNMA1 in Severe Paediatric Disorders


    Version 1.66

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
    • Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
    • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
    • Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
    • Liang-Wang syndrome, OMIM:618729
    • Liang-Wang syndrome, MONDO:0032886