PanelApp (test)
  1. Genes and Genomic Entities
  2. DYNC1H1

DYNC1H1

dynein cytoplasmic 1 heavy chain 1
OMIM: 600112, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green DYNC1H1 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.19

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Mental retardation, autosomal dominant 13, MIM# 614563

    Green DYNC1H1 in Polymicrogyria and Schizencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.189

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship

    Red DYNC1H1 in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.24

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600

    Green DYNC1H1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.411

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
    • Mental retardation, autosomal dominant 13, MIM# 614563
    • Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600

    Green DYNC1H1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortical dysplasia, complex MIM#614563

    Green DYNC1H1 in Mendeliome


    Version 1.1902

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 20
    • Mental retardation, autosomal dominant 13
    • Spinal muscular atrophy, lower extremity-predominant 1

    Green DYNC1H1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600
    • MONDO:0008026)

    Green DYNC1H1 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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563

    Green DYNC1H1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

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

    Green DYNC1H1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green DYNC1H1 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228

    Green DYNC1H1 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
    • Mental retardation, autosomal dominant 13, MIM# 614563
    • Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600