1. Genes and Genomic Entities
  2. ISCA-37467-Gain

ISCA-37467-Gain

2 panels

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


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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