ISCA-46295-Loss

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-46295-Loss Region in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2 (13 Feb 2020)

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 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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