Hereditary neuropathy

Gene: PRPS1

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

• 17701900
• 24285972

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

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.

Green List (high evidence)

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

Green List (high evidence)

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

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

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)

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

• 25491489

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.