1. Panels
  2. Research panel - Severe Paediatric Disorders
  3. PRPS1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Research panel - Severe Paediatric Disorders

Gene: PRPS1

Green List (high evidence)
PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000147224
EnsemblGeneIds (GRCh37): ENSG00000147224
OMIM: 311850, Gene2Phenotype
PRPS1 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PRPS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arts syndrome, 301835 (3) | Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3) | Deafness, X-linked 1, 304500 (3) | Gout, PRPS-related, 300661 (3) | Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3); Mode of inheritance: X-linked recessive | X-linked recessive | X-linked | X-linked recessive | X-linked recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:24 p.m.
Last Modified: 20 Feb 2020, 5:24 p.m.
Panel version: 0.12

Details

Mode of Inheritance
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
OMIM
311850
Clinvar variants
Variants in PRPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PRPS1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PRPS1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: PRPS1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: PRPS1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: PRPS1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Phosphoribosylpyrophosphate synthetase superactivity, 300661; Deafness, X-linked 1, 304500; Arts syndrome, 301835; Gout, PRPS-related, 300661; Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 for gene: PRPS1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to PRPS1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PRPS1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PRPS1 was added gene: PRPS1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PRPS1 was set to