Genomics England
GMS Panels
Panels
Genes and Entities

PLEKHG5

pleckstrin homology and RhoGEF domain containing G5
OMIM: 611101
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067, Charcot Marie Tooth disease, recessive intermediate C, 615376