Miscellaneous Metabolic Disorders
Gene: PRPS1EnsemblGeneIds (GRCh38): ENSG00000147224
EnsemblGeneIds (GRCh37): ENSG00000147224
OMIM: 311850, Gene2Phenotype
PRPS1 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phosphoribosylpyrophosphate synthetase catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis.
Both increased and decreased enzyme activity has been linked to disease.
Sources: Expert ReviewCreated: 7 Feb 2021, 2:56 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Arts syndrome 301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 311070; Deafness, X-linked 1 304500; Gout, PRPS-related 300661; Phosphoribosylpyrophosphate synthetase superactivity 300661
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Arts syndrome 301835
- Charcot-Marie-Tooth disease, X-linked recessive, 5 311070
- Deafness, X-linked 1 304500
- Gout, PRPS-related 300661
- Phosphoribosylpyrophosphate synthetase superactivity 300661
- OMIM
- 311850
- Clinvar variants
- Variants in PRPS1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Nucleotide metabolism disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Regression
- Deafness_Isolated
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prps1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prps1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PRPS1 was added gene: PRPS1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to Arts syndrome 301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 311070; Deafness, X-linked 1 304500; Gout, PRPS-related 300661; Phosphoribosylpyrophosphate synthetase superactivity 300661 Review for gene: PRPS1 was set to GREEN