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Motor Neurone Disease

Gene: PLEKHG5

Red List (low 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)

Red List (low evidence)

Onset is in early childhood.
Created: 28 Sep 2020, 3:25 a.m. | Last Modified: 28 Sep 2020, 3:25 a.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067

Publications

Created: 28 Sep 2020, 3:25 a.m.
Last Modified: 28 Sep 2020, 3:25 a.m.
Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • 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

28 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plekhg5 has been classified as Red List (Low Evidence).

28 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PLEKHG5 were changed from to Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067

28 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PLEKHG5 were set to

28 Sep 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PLEKHG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plekhg5 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLEKHG5 was added gene: PLEKHG5 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: PLEKHG5 was set to Unknown