PanelApp (stage)
  1. Genes and Genomic Entities
  2. WIPI2

WIPI2

WD repeat domain, phosphoinositide interacting 2
OMIM: 609225, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green WIPI2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with short stature and variable skeletal anomalies 618453

Green WIPI2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
  • global developmental delay
  • intellectual disability
  • refractory infantile/childhood-onset epilepsy
  • progressive tetraplegia with joint contractures
  • dyskinesia
  • speech and visual impairment
  • autistic features
  • ataxic gait