DVL1

dishevelled segment polarity protein 1
OMIM: 601365, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green DVL1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Robinow syndrome, autosomal dominant 2 (MIM#616331)

Green DVL1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow syndrome, autosomal dominant 2 (MIM#616331)

Green DVL1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
Phenotypes
  • Robinow syndrome, autosomal dominant 2, MIM# 616331

Green DVL1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • DRS2
  • ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

Green DVL1 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.74

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    Phenotypes
    • Robinow syndrome, autosomal dominant 2, MIM# 616331

    Green DVL1 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Robinow syndrome, autosomal dominant 2 (MIM#616331)