1. Genes and Genomic Entities
  2. ISCA-46295-Loss

ISCA-46295-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ISCA-46295-Loss Region in Early onset or syndromic epilepsy


Level 2: Neurology
Version 8.173
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • ClinGen
    Phenotypes
    • seizures
    • 20236110
    • mental retardation
    • 22775350
    • dysmorphic features
    • developmental delay
    • severe epileptic encephalopathy
    Green ISCA-46295-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
    • seizures
    • 20236110
    • mental retardation
    • 22775350
    • dysmorphic features
    • developmental delay
    • severe epileptic encephalopathy