CHRND

cholinergic receptor nicotinic delta subunit
OMIM: 100720, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green CHRND in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

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

    Green CHRND in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multiple pterygium syndrome, lethal type, MIM# 253290

    Green CHRND in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322
    • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323
    • Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321
    • Multiple pterygium syndrome, lethal type, MIM# 253290
    • MONDO:0009668
    Tags
    • treatable

    Green CHRND in Multiple pterygium syndrome_Fetal akinesia sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multiple pterygium syndrome, lethal type, MIM# 253290
    • MONDO:0009668
    Tags
    • treatable

    Red CHRND 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
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • congenital myopathy MONDO:0019952

    Green CHRND in Congenital Myasthenia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.10

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322
    • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323
    • Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321
    Tags
    • treatable

    Green CHRND 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
    • Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)

    Green CHRND in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Congenital myasthenic syndrome

    Green CHRND in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 3B, fast-channel, MIM# 616322
    Tags
    • treatable

    Green CHRND in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multiple pterygium syndrome, lethal type, MIM# 253290
    • MONDO:0009668

    Green CHRND in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Multiple pterygium syndrome, lethal type MIM#253290
    • Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322

    Green CHRND in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322
    • Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323
    • Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321
    • Multiple pterygium syndrome, lethal type, MIM# 253290
    • MONDO:0009668
    Tags
    • treatable
    • neurological