1. Genes and Genomic Entities
  2. PRPH

PRPH

peripherin
OMIM: 170710, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PRPH in Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Amber
Phenotypes
  • {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:170710