Genes in panel

Hereditary neuropathy

Gene: PLEKHG5

Green List (high evidence)

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

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Bristol - no pathogenic or likely pathogenic variants out of approx.1900 patients tested. PMID: 23844677 - single proband with RI-CMT compound heterozygous variants. Some weak evidence that variant impact on NF-_B pathway. PMID:17564964 - five affected members of a Malian family with a homozygous mutation
Created: 29 Apr 2019, 12:30 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

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Sourced from OMIM.
Created: 3 May 2016, 4:33 p.m.

Details

Mode of Inheritance
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
OMIM
611101
Clinvar variants
Variants in PLEKHG5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 for gene: PLEKHG5 Publications for gene PLEKHG5 were changed from to 23844677; 17564964

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to PLEKHG5.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PLEKHG5.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PLEKHG5. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 May 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PLEKHG5 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEKHG5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEKHG5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEKHG5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEKHG5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory