DVL1

dishevelled segment polarity protein 1
OMIM: 601365, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DVL1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

1 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 2.0

1 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 Osteopetrosis


Level 2: Skeletal disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Robinow syndrome, autosomal dominant 2, MIM# 616331

Green DVL1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews 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 1.0

0 reviews 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 1.0

2 reviews 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 2.0

1 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)