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 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0 (1 May 2024)

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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    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