PLEKHG5

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PLEKHG5 in Neuromuscular disorders


Version 5.92
Signed off v.5.43 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
  • Distal Spinal Muscular Atrophy

Red PLEKHG5 in Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.35
Signed off v.1.30 on 4 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • 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 1.383

    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 NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    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