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Retinal disorders

Gene: PRPS1

Green List (high evidence)

PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000147224
EnsemblGeneIds (GRCh37): ENSG00000147224
OMIM: 311850, Gene2Phenotype
PRPS1 is in 11 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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)

Phenotypes
retinal dystrophy

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
Phenotypes
  • retinal dystrophy
OMIM
311850
Clinvar variants
Variants in PRPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PRPS1. Rating Changed from Green List (high evidence) to Green List (high evidence)

18 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Dec 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

8 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PRPS1 was added to Posterior segment abnormalities panel. Sources: Literature

8 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PRPS1 was created by Ellen McDonagh