PLEKHG2

pleckstrin homology and RhoGEF domain containing G2
OMIM: 611893, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PLEKHG2 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert Review
    • Expert Review Amber
    • Expert Review
    • Literature
    Phenotypes
    • Leukodystrophy and acquired microcephaly with or without dystonia, 616763
    Tags
    • watchlist