1. Genes and Genomic Entities
  2. WNT1

WNT1

Wnt family member 1
OMIM: 164820, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green WNT1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.9
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • Expert
    Phenotypes
    • {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221
    • Osteogenesis imperfecta, type XV, OMIM:615220
    Green WNT1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.7
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Osteogenesis imperfecta, type XV, OMIM:615220
    Green WNT1 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    		review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Osteogenesis imperfecta, type XV, OMIM:615220
    • {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221
    Green WNT1 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OSTEOGENESIS IMPERFECTA
    Green WNT1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.16
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Osteogenesis imperfecta, type XV, 615220
    • {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221