ISCA-37447-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-37447-Loss Region in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.13
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Kagami-Ogata syndrome, OMIM:608149
    • Temple syndrome, OMIM:616222
    Green ISCA-37447-Loss Region in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Kagami-Ogata syndrome, OMIM:608149
    • Temple syndrome, OMIM:616222