PanelApp
  1. Genes and Genomic Entities
  2. DCTN1

DCTN1

dynactin subunit 1
OMIM: 601143, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green DCTN1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.50

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Perry syndrome, MONDO:0008201

    Green DCTN1 in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    Component of the following Super Panels:

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

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Amber
    • Expert Review Green
    Phenotypes
    • Perry syndrome, MONDO:0008201

    Green DCTN1 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.43

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Perry syndrome, MONDO:0008201

    Green DCTN1 in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641
    • MONDO:0011879
    • Perry syndrome, MIM# 168605

    Red DCTN1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Perry syndrome MIM#168605

    Green DCTN1 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.68

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Neuronopathy, distal hereditary motor, type 7B, MONDO:0011879

    Red DCTN1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Amyotrophic lateral sclerosis

    Red DCTN1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Amyotrophic lateral sclerosis