Retinal disorders
Gene: PRPS1
PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000147224
EnsemblGeneIds (GRCh37): ENSG00000147224
OMIM: 311850, Gene2Phenotype
PRPS1 is in 11 panels
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)
Ellen McDonagh (Genomics England Curator)
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
- Expert Review Green
- Literature
- Phenotypes
-
- retinal dystrophy
- OMIM
- 311850
- Clinvar variants
- Variants in PRPS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- DDG2P
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