1. Genes and Genomic Entities
  2. PLEKHG2

PLEKHG2

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

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green PLEKHG2 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
    • Expert Review
    • Expert Review
    • Literature
    Phenotypes
    • Leukodystrophy and acquired microcephaly with or without dystonia, OMIM:616763
    • leukodystrophy and acquired microcephaly with or without dystonia
    • MONDO:0014766