1. Genes and Genomic Entities
  2. DCC

DCC

DCC netrin 1 receptor
OMIM: 120470, Gene2Phenotype

13 panels

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


Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542
    Amber DCC in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542
    Tags
    • watchlist
    • structural-variant
    Amber DCC in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
    • Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
    Amber DCC in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Gaze palsy, familial horizontal, with progressive scoliosis, 2
    Red DCC in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Mirror movements 1 and/or agenesis of the corpus callosum, 157600
    • Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542
    Amber DCC in Ehlers Danlos syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.12
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
    Tags
    • watchlist
    • structural-variant
    Amber DCC in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability
    Green DCC in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability
    Red DCC in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability
    Tags
    • watchlist
    • structural-variant
    Amber DCC in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
    Tags
    • watchlist
    • structural-variant
    Red DCC in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Mirror movements 1 and/or agenesis of the corpus callosum
    Red DCC in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green DCC in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mirror movements 1 and/or agenesis of the corpus callosum, 157600
    • Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542