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  2. Hereditary Neuropathy_CMT - isolated
  3. PLEKHG5
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Hereditary Neuropathy_CMT - isolated

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PLEKHG5-associated neuropathies phenotypically include spinal muscular atrophy (SMA) or intermediate Charcot-Marie-Tooth disease. Multiple families reported.
Created: 29 May 2021, 10:02 a.m. | Last Modified: 29 May 2021, 10:02 a.m.
Panel Version: 0.200

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 29 May 2021, 10:02 a.m.
Last Modified: 29 May 2021, 10:02 a.m.
Panel version: 0.200

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376
  • Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067
OMIM
611101
Clinvar variants
Variants in PLEKHG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plekhg5 has been classified as Green List (High Evidence).

29 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLEKHG5 were changed from HMSN, dHMN/dSMA; Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 to HMSN, dHMN/dSMA; Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067

29 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLEKHG5 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PLEKHG5 was added gene: PLEKHG5 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PLEKHG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLEKHG5 were set to HMSN, dHMN/dSMA; Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067