1. Genes and Genomic Entities
  2. WIPI2

WIPI2

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green WIPI2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

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