1. Genes and Genomic Entities
  2. DYNC1H1

DYNC1H1

dynein cytoplasmic 1 heavy chain 1
OMIM: 600112, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red DYNC1H1 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Charcot Marie Tooth, SMA, Intellectual disability
    Red DYNC1H1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Charcot Marie Tooth, SMA, Intellectual disability
    Green DYNC1H1 in Malformations of cortical development


    Level 2: Neurology
    Version 7.30
    Latest signed off version: v7.0 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review
    Phenotypes
    • Mental retardation, autosomal dominant 13 614563
    Green DYNC1H1 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • arthrogryposis
    • neuronal migration abnormalities
    • Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
    Red DYNC1H1 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Charcot Marie Tooth, SMA, Intellectual disability
    Green DYNC1H1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SEVERE ID WITH NEURONAL MIGRATION DISORDER
    • SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD
    Green DYNC1H1 in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.12
    Latest signed off version: v3.9 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinal muscular atrophy, lower extremity-predominant 1, AD, OMIM:158600
    Green DYNC1H1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600
    • SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112
    Green DYNC1H1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Charcot Marie Tooth disease, axonal, type 20, 614228
    • Mental retardation, autosomal dominant 13, 614563
    • Spinal muscular atrophy, lower extremity predominant, AD, 158600
    Green DYNC1H1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation, autosomal dominant 13, 614563
    • malformations of cortical development (MCD)
    • Lennox Gastaut
    • Early-onset epilepsy
    • Late-onset epilepsy
    • Focal seizures
    Green DYNC1H1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Mental Retardation, Dominant
    • Charcot-Marie-Tooth disease, axonal, type 20, 614228
    • Mental retardation, autosomal dominant 13, 614563
    • Spinal muscular atrophy, lower extremity-predominant, AD, 158600
    • SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD
    Amber DYNC1H1 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Autosomal dominant MR 13, 614563
    • Charcot Marie Tooth, SMA, Intellectual disability
    Green DYNC1H1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Mental retardation, autosomal dominant 13, 614563
    • Spinal muscular atrophy, lower extremity predominant, AD, 158600
    • Charcot Marie Tooth disease, axonal, type 20, 614228