PLEKHG5

pleckstrin homology and RhoGEF domain containing G5
OMIM: 611101, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Red PLEKHG5 in Paediatric motor neuronopathies Level 2: Neurology Version 3.12 Latest signed off version: v3.9 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Distal Spinal Muscular Atrophy Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
Green PLEKHG5 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Charcot Marie Tooth disease, recessive intermediate C, 615376 Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
Green PLEKHG5 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 Charcot Marie Tooth disease, recessive intermediate C, 615376