ISCA-37418-Gain

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ISCA-37418-Gain Region in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Potocki-Lupski syndrome, MIM# 610883
  • intellectual disability
  • hypotonia
  • congenital anomalies

Green ISCA-37418-Gain 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
  • Potocki-Lupski syndrome, MIM# 610883

Green ISCA-37418-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
  • Potocki-Lupski syndrome, MIM# 610883
  • intellectual disability
  • hypotonia
  • congenital anomalies