Retinal disordersGene: PRPS1
Comment on list classification: Promoted this gene from amber to green after confirmation with the Genomics England Clinical Team. In males, variants in this gene may cause embryonic lethality (as commented on in PMID: 28967191).
Created: 18 Dec 2017, 12:08 p.m.
Heterozygous missense variants in this gene were reported in 8 females from 5 families, and validated by sanger sequencing. All affected individuals had retinal dystrophy, three had hearing loss.
Created: 8 Dec 2017, 5:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Source NHS GMS was added to PRPS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
PRPS1 was added to Posterior segment abnormalities panel. Sources: Literature
PRPS1 was created by Ellen McDonagh