Genes in panel

Neurodegenerative disorders - adult onset

Gene: PRPH

Amber List (moderate evidence)

PRPH (peripherin)
EnsemblGeneIds (GRCh38): ENSG00000135406
EnsemblGeneIds (GRCh37): ENSG00000135406
OMIM: 170710, Gene2Phenotype
PRPH is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Individuals reported with variants in gene. No familial studies. No additional variants using Sheffield panel.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic lateral sclerosis, susceptibility to, 170710

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Amber
Phenotypes
  • 170710
  • Amyotrophic lateral sclerosis, susceptibility to
OMIM
170710
Clinvar variants
Variants in PRPH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 2

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PRPH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 170710; Amyotrophic lateral sclerosis, susceptibility to for gene: PRPH Publications for gene PRPH were changed from to 25299611; 15446584; 15322088

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PRPH.

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PRPH.

23 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PRPH was added gene: PRPH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: PRPH was set to