ISCA-37467-Gain

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-37467-Gain Region in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype
    • 174500
    • Triphalangeal thumbpolysyndactyly syndrome
    • syndactyly type IV with tibial hypoplasia
    Green ISCA-37467-Gain Region in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype
    • 174500
    • Triphalangeal thumbpolysyndactyly syndrome
    • syndactyly type IV with tibial hypoplasia