Adult onset neurodegenerative disorder
Gene: PLEKHG5

PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5)
EnsemblGeneIds (GRCh38): ENSG00000171680
EnsemblGeneIds (GRCh37): ENSG00000171680
OMIM: 611101, Gene2Phenotype
PLEKHG5 is in 4 panels

1 review

Oliver Ziff (University College London)

Causes a late-onset distal hereditary motor neuropathy and SMA with progressive LMN signs that mimic PMA. Inclusion prevents sequential WGS reanalysis on R460.1 requests.
Sources: Expert Review, Literature
Created: 22 May 2026, 1:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 22 May 2026, 1:13 p.m.

Panel version: 9.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

Charcot Marie Tooth disease, recessive intermediate C, 615376
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067

OMIM

611101

Clinvar variants

Variants in PLEKHG5

Penetrance

Complete

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

22 May 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Oliver Ziff (University College London)

gene: PLEKHG5 was added gene: PLEKHG5 was added to Adult onset neurodegenerative disorder. Sources: Expert Review,Literature Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG5 were set to 23844677; 17564964 Phenotypes for gene: PLEKHG5 were set to Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Penetrance for gene: PLEKHG5 were set to Complete Mode of pathogenicity for gene: PLEKHG5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Adult onset neurodegenerative disorder Gene: PLEKHG5