ISCA-37404-Gain

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-37404-Gain 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 15q11q13 duplication syndrome
  • {Autism susceptibility 4} 608636
  • intellectual disability
  • seizures
  • ataxia
Tags
  • SV/CNV

Green ISCA-37404-Gain Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Chromosome 15q11q13 duplication syndrome
  • {Autism susceptibility 4} 608636
  • intellectual disability
  • seizures
  • ataxia
Tags
  • SV/CNV

Green ISCA-37404-Gain 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 15q11q13 duplication syndrome
  • {Autism susceptibility 4} 608636
  • intellectual disability
  • seizures
  • ataxia
Tags
  • SV/CNV