NALCN

sodium leak channel, non-selective
OMIM: 611549, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green NALCN in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266

    Amber NALCN in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cerebral palsy
    • Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266)

    Green NALCN in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266
    • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419

    Green NALCN in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266
    • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419

    Green NALCN in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)

    Green NALCN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266
    • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, MIM # 615419

    Green NALCN in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)

    Green NALCN in Fetal anomalies


    Version 1.314

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Congenital contractures of the limbs and face, hypotonia, and developmental delay (MIM#616266)
    • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)

    Green NALCN in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)

    Green NALCN in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)