PRPS1

phosphoribosyl pyrophosphate synthetase 1
OMIM: 311850, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PRPS1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature 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
Green PRPS1 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London North GLH NHS GMS 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
Red PRPS1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY ARTS SYNDROME CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 DEAFNESS X-LINKED TYPE 1
Green PRPS1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTS SYNDROME 301835 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661 DEAFNESS X-LINKED TYPE 1 304500 CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070
Green PRPS1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Charcot Marie Tooth disease, X linked recessive, 5, 311070
Green PRPS1 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.41 Latest signed off version: v4.39 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Nonsyndromic Hearing Loss, X-Linked Gout, PRPS-related, 300661 hearing loss #300661:Phosphoribosylpyrophosphate synthetase superactivity #301835:Arts syndrome #304500:Deafness, X-linked 1 #311070:Charcot-Marie-Tooth disease, X-linked recessive, 5
Green PRPS1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 Arts syndrome, 301835 Deafness, X-linked 1, 304500 CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 (CMTX5) Gout, PRPS-related, 300661 Phosphoribosylpyrophosphate synthetase superactivity, 300661
Amber PRPS1 in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes cerebellar ataxia, MONDO:0000437
Green PRPS1 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024)	review	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
Green PRPS1 in Hereditary neuropathy or pain disorder Version 4.11 Latest signed off version: v4.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot Marie Tooth disease, X linked recessive, 5, 311070
Red PRPS1 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green PRPS1 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 Deafness, X-linked 1, 304500 Phosphoribosylpyrophosphate synthetase superactivity, 300661 Gout, PRPS-related, 300661 Arts syndrome, 301835