ISCA-37467-Gain

2 panels

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


Version 4.14
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • ClinGen
    Phenotypes
    • human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype
    • 174500
    • Triphalangeal thumbpolysyndactyly syndrome
    • syndactyly type IV with tibial hypoplasia
    Tags
    • Q3_23_promote_green
    Green ISCA-37467-Gain Region in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.104
    Latest signed off version: v4.0 (22 Mar 2023)

    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