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 DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum
    • OMIM:618453.0
    • MONDO:0032759
    Green WIPI2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

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