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  2. Paediatric motor neuronopathies
  3. PLEKHG5
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Paediatric motor neuronopathies

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

Alice Gardham (Genomics England)

Mutation only identified in one family
Created: 26 Jan 2017, 11:48 a.m.
Created: 2 Nov 2016, 1:25 p.m.

Panel version: 0.7

Details

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

History Filter Activity

7 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

26 Jan 2017, Gel status: 1

Set publications

Alice Gardham (Genomics England)

Publications for PLEKHG5 were set to 17564964

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

8 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PLEKHG5 was added to Paediatric motor neuronopathiespanel. Sources: Expert

30 Apr 2015, Gel status: 2

Added New Source

Antonio Rueda (GEL)

PLEKHG5 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen

30 Apr 2015, Gel status: 1

Added New Source

Antonio Rueda (GEL)

PLEKHG5 was added to Paediatric motor neuronopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services