Hereditary neuropathy
Gene: PRPS1
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 childhoodCreated: 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
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.
Variants in this GENE are reported as part of current diagnostic practice
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
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
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
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.
Added phenotypes Charcot Marie Tooth disease, X linked recessive, 5, 311070 for gene: PRPS1 Publications for gene PRPS1 were changed from to 24285972; 17701900
Source South West GLH was added to PRPS1.
Source NHS GMS was added to PRPS1.
Source London North GLH was added to PRPS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PRPS1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070
Model of inheritance for gene PRPS1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PRPS1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PRPS1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PRPS1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PRPS1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Model of inheritance for gene PRPS1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
PRPS1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene PRPS1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
PRPS1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene PRPS1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
PRPS1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene PRPS1 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
PRPS1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory
PRPS1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory