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PLEKHG5

pleckstrin homology and RhoGEF domain containing G5

HCNC Approved Symbol
PLEKHG5 (HGNC:29105)
Genomic Coordinates
1:6,467,122 - 6,520,092 (1p36.31)
Synonyms
KIAA0720, Syx, GEF720, Tech, ARHGEF45
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Charcot-Marie-Tooth disease, recessive intermediate C
615376AR
Neuronopathy, distal hereditary motor, autosomal recessive 4
611067AR

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PLEKHG5 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Myopathy
 1 (100.0%)