ISCA-37400-Loss

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ISCA-37400-Loss Region in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.233

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913
  • autism
  • intellectual disability
  • seizures
Tags
  • SV/CNV

Green ISCA-37400-Loss Region in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913
    • autism
    • intellectual disability
    • seizures
    Tags
    • SV/CNV

    Green ISCA-37400-Loss Region in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.507

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913
    • autism
    • intellectual disability
    • seizures
    Tags
    • SV/CNV

    Green ISCA-37400-Loss Region in Common deletion and duplication syndromes


    Version 0.146

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913
    • autism
    • intellectual disability
    • seizures
    Tags
    • SV/CNV