1. Genes and Genomic Entities
  2. VANGL1

VANGL1

VANGL planar cell polarity protein 1
OMIM: 610132, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red VANGL1 in Currarino triad


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • SACRAL DEFECT WITH ANTERIOR MENINGOCELE
  • Caudal regression syndrome
  • SDAM
  • sacral agenesis
  • Caudal regression syndrome,600145
  • Caudal Dysgenesis Syndrome
Red VANGL1 in Familial Neural Tube Defects


Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Susceptibility to neural tube defects
  • Neural tube defects
Red VANGL1 in DDG2P


Version 3.87
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 Red
    Phenotypes
    • NEURAL TUBE DEFECTS 182940