ISCA-37441-Loss

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ISCA-37441-Loss Region in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.40
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Potocki-Shaffer syndrome
    • multiple exostoses
    • biparietal foramina
    • intellectual disability
    • strabismus
    • minor craniofacial anomalies
    • myopia
    • ophthalmologic anomalies
    • 601224
    • mental retardation
    • enlarged anterior fontanel
    • genital abnormalities in males
    • parietal foramina
    • developmental delay
    Green ISCA-37441-Loss Region in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.4
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Potocki-Shaffer syndrome
    • multiple exostoses
    • biparietal foramina
    • intellectual disability
    • strabismus
    • minor craniofacial anomalies
    • myopia
    • ophthalmologic anomalies
    • 601224
    • mental retardation
    • enlarged anterior fontanel
    • genital abnormalities in males
    • parietal foramina
    • developmental delay
    Green ISCA-37441-Loss Region in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    • Potocki-Shaffer syndrome
    • multiple exostoses
    • biparietal foramina
    • intellectual disability
    • strabismus
    • minor craniofacial anomalies
    • myopia
    • ophthalmologic anomalies
    • 601224
    • mental retardation
    • enlarged anterior fontanel
    • genital abnormalities in males
    • parietal foramina
    • developmental delay