Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary neuropathy NOT PMP22 copy number

Gene: PRPS1

Green List (high evidence)

PRPS1 (phosphoribosyl pyrophosphate synthetase 1)
EnsemblGeneIds (GRCh38): ENSG00000147224
EnsemblGeneIds (GRCh37): ENSG00000147224
OMIM: 311850, Gene2Phenotype
PRPS1 is in 12 panels

9 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Bristol - no pathogenic or likely pathogenic variants out of approx.1900 patients tested. Hearing loss seems to be first presentation, with peripheral neuropathy developing later in childhood. PMID:17701900 and PMID: 24285972 - Hearing loss seems to be first presentation, with peripheral neuropathy developing later in childhood
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Charcot Marie Tooth disease, X linked recessive, 5, 311070

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Variants in this GENE are reported as part of current diagnostic practice

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Variants in this GENE are reported as part of current diagnostic practice

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sarah Leigh (Genomics England Curator)

Although the phenotype is described as Charcot-Marie-Tooth disease, X-linked recessive, 5 (311070), at least one report suggests that rs869025594 as a heterozygous change is associated with the Charcot-Marie-Tooth phenotype in 4 females of a 3 generation Spanish family (PMID 25491489).
Created: 12 Jan 2017, 4:03 p.m.

Publications

Ellen McDonagh (Genomics England Curator)

Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 1:09 p.m.
Comment on mode of inheritance: Multiple reviewers have provided this mode of inheritance.
Created: 3 May 2016, 4:35 p.m.

Details

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

History Filter Activity

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PRPS1 was added gene: PRPS1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PRPS1 were set to 17701900; 24285972 Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070