ISCA-46742-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-46742-Loss Region in Severe microcephaly


Level 2: Neurology
Version 8.41
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Green ISCA-46742-Loss Region in Intellectual disability


Level 2: Developmental disorders
Version 9.355
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
    • ClinGen
    • Expert Review Green