ISCA-37423-Gain

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ISCA-37423-Gain Region in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.540

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • 8p23.1 duplication syndrome
  • intellectual disability
  • congenital heart disease
Tags
  • SV/CNV

Green ISCA-37423-Gain Region in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.780

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • 8p23.1 duplication syndrome
  • intellectual disability
  • congenital heart disease
Tags
  • SV/CNV

Green ISCA-37423-Gain Region in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.318

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • 8p23.1 duplication syndrome
  • intellectual disability
  • congenital heart disease
Tags
  • SV/CNV

Green ISCA-37423-Gain Region in Common deletion and duplication syndromes


Version 0.158

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 8p23.1 duplication syndrome
  • intellectual disability
  • congenital heart disease
Tags
  • SV/CNV