1. Genes and Genomic Entities
  2. DVL3

DVL3

dishevelled segment polarity protein 3
OMIM: 601368, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green DVL3 in Limb disorders


Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Robinow syndrome, autosomal dominant 3 616894
    Red DVL3 in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green DVL3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.63
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Robinow syndrome, autosomal dominant 3, 616894
    Green DVL3 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AUTOSOMAL-DOMINANT ROBINOW SYNDROME
    Red DVL3 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.180
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • craniosynostosis, MONDO:0015469
    Green DVL3 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AUTOSOMAL-DOMINANT ROBINOW SYNDROME
    Red DVL3 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert
    Green DVL3 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.110
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Robinow syndrome, autosomal dominant 3, 616894
    Red DVL3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • AUTOSOMAL-DOMINANT ROBINOW SYNDROME
    Green DVL3 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Robinow syndrome, autosomal dominant 3, 616894