ISCA-37408-Loss

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ISCA-37408-Loss Region in Congenital myopathy


Level 2: Neurology
Version 7.46
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
    Green ISCA-37408-Loss Region in Severe microcephaly


    Level 2: Neurology
    Version 9.3
    Latest signed off version: v9.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
    Green ISCA-37408-Loss Region in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.16
    Latest signed off version: v3.13 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies
    Green ISCA-37408-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
    • Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies