PRPH, peripherin, 5630

N. diseases: 73; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58599399
rs58599399
Entrez Id: 5630;101927267
Gene Symbol: PRPH;LOC101927267
PRPH;LOC101927267
CUI: C4016314
Disease:
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1384483492
rs1384483492
Entrez Id: 5630;101927267
Gene Symbol: PRPH;LOC101927267
PRPH;LOC101927267
CUI: C0042798
Disease:
Low Vision
0.010 GeneticVariation BEFREE Three children (two families; assessed at 2 years old) and two adults (one family; assessed at 24 and 35 years old) with homozygous PRPH2 mutations (c.497G>A (p.Cys166Tyr) or c.136C>T (p.Arg46*)) all had infantile nystagmus and decreased vision noted soon after birth and a history of staring at lights during infancy (photophilia). 26061163 2016
dbSNP: rs1384483492
rs1384483492
Entrez Id: 5630;101927267
Gene Symbol: PRPH;LOC101927267
PRPH;LOC101927267
CUI: C0028738
Disease:
Nystagmus
0.010 GeneticVariation BEFREE Three children (two families; assessed at 2 years old) and two adults (one family; assessed at 24 and 35 years old) with homozygous PRPH2 mutations (c.497G>A (p.Cys166Tyr) or c.136C>T (p.Arg46*)) all had infantile nystagmus and decreased vision noted soon after birth and a history of staring at lights during infancy (photophilia). 26061163 2016
dbSNP: rs58599399
rs58599399
Entrez Id: 5630;101927267
Gene Symbol: PRPH;LOC101927267
PRPH;LOC101927267
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE Seven variants were not identified in a panel of at least 245 matched controls, including 2 missense variations, namely p.R133P and p.D141Y, each identified in one heterozygous patient. p.R133P was newly identified whereas p.D141Y was previously described in one homozygous sporadic ALS patient. 20363051 2011