PanelApp (test)
  1. Genes and Genomic Entities
  2. PLEKHG2

PLEKHG2

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PLEKHG2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leukodystrophy and acquired microcephaly with or without dystonia, MIM# 616763

Amber PLEKHG2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Leukodystrophy and acquired microcephaly with or without dystonia, 616763

Amber PLEKHG2 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.308

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • Expert list
    • Expert list
    Phenotypes
    • Leukodystrophy and acquired microcephaly with or without dystonia 616763