Genomics England
GMS Panels
Panels
Genes and Entities

PLEKHG2

pleckstrin homology and RhoGEF domain containing G2
OMIM: 611893
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy and acquired microcephaly with or without dystonia, OMIM:616763, leukodystrophy and acquired microcephaly with or without dystonia, MONDO:0014766