ISCA-37441-Loss

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-37441-Loss Region in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.211
Latest signed off version: v2.2 (13 Feb 2020)

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 Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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