PRPS1

phosphoribosyl pyrophosphate synthetase 1
OMIM: 311850, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green PRPS1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.440	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 Inborn errors of metabolism Version 2.50 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	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 1.162 Signed off v.1.92 on 21 Aug 2020	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 2.18 Signed off v.2.2 on 13 Feb 2020 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 1.381	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 Hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 2.146 Signed off v.2.5 on 13 Feb 2020	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 3.714 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	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
Green PRPS1 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 2.120 Signed off v.2.7 on 25 Feb 2020	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 NOT PMP22 copy number Version 1.19 Signed off v.1.2 on 27 Feb 2020	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 or chorea or related movement disorder Version 1.72 Signed off v.1.58 on 6 Oct 2020	review	Not set	Sources Expert Review Red London North GLH
Green PRPS1 in Severe Paediatric Disorders Version 1.42	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