DCTN1

dynactin subunit 1
OMIM: 601143, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green DCTN1 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Perry syndrome
Red DCTN1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • Perry syndrome
Red DCTN1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Neuropathy, distal hereditary motor, type VIIB
Green DCTN1 in Neurodegenerative disorders, adult onset


Level 2: Neurology
Version 9.11
Latest signed off version: v9.4 (12 Aug 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Neuropathy, distal hereditary motor, type VIIB, OMIM:607641
    • Perry syndrome, OMIM:168605
    • {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:105400
    Green DCTN1 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.75

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neuropathy, distal hereditary motor, type VIIB, 607641
    • {Amyotrophic lateral sclerosis, susceptibility to}, 105400
    • Perry syndrome, 168605
    Red DCTN1 in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.17
    Latest signed off version: v3.16 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Green DCTN1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.513

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • London North GLH
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    Phenotypes
    • {Amyotrophic lateral sclerosis, susceptibility to}, 105400
    • Neuropathy, distal hereditary motor, type VIIB 607641
    • Perry syndrome, 168605
    Red DCTN1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review Other - please specify in evaluation comments
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Neuropathy, distal hereditary motor, type VIIB, 607641
    • {Amyotrophic lateral sclerosis, susceptibility to}, 105400
    • Perry syndrome, 168605
    Green DCTN1 in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.9
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Perry syndrome, OMIM:168605
    • Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641
    Green DCTN1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.33
    Latest signed off version: v8.30 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • South West GLH
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Perry syndrome, 168605
    • {Amyotrophic lateral sclerosis, susceptibility to}, 105400
    • Neuropathy, distal hereditary motor, type VIIB 607641
    Red DCTN1 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PanelApp
    • South West GLH
    Phenotypes
    • Neuropathy, distal hereditary motor, type VIIB