Neurodegenerative disorders - adult onsetGene: PRPH
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
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
Amyotrophic lateral sclerosis, susceptibility to, 170710
Variants in this GENE are reported as part of current diagnostic practice
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
Source NHS GMS was added to PRPH.
Source Yorkshire and North East GLH was added to PRPH.
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