PRPS1

phosphoribosyl pyrophosphate synthetase 1
OMIM: 311850, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
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