DCTN1

dynactin subunit 1
OMIM: 601143, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green DCTN1 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

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 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • Perry syndrome

Red DCTN1 in Neuromuscular disorders


Version 5.167
Latest signed off version: v5.43 (4 Mar 2020)

review Unknown
Sources
  • Expert Review Red

Red DCTN1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.86

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


Version 2.174
Latest signed off version: v2.31 (8 Oct 2020)

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 1.29

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 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.62
Latest signed off version: v1.30 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • 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 1.385

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 Adult onset movement disorder


    Version 1.121
    Latest signed off version: v1.14 (15 Oct 2020)

    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 NOT PMP22 copy number


    Version 1.27
    Latest signed off version: v1.2 (27 Feb 2020)

    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 Childhood onset dystonia or chorea or related movement disorder


    Version 1.130
    Latest signed off version: v1.58 (6 Oct 2020)

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

    Green DCTN1 in Severe Paediatric Disorders


    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Perry syndrome, 168605
    • Neuropathy, distal hereditary motor, type VIIB, 607641