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 9.3
Latest signed off version: v9.0 (6 May 2026)

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 10.16
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
    • ClinGen
    • Expert Review Green