Hereditary neuropathy or pain disorder
Gene: PRXEnsemblGeneIds (GRCh38): ENSG00000105227
EnsemblGeneIds (GRCh37): ENSG00000105227
OMIM: 605725, Gene2Phenotype
PRX is in 5 panels
8 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
One patient in Bristol apparently homozygous for frameshift - parents not tested. PMID: 11157804 and PMID: 10848494 - nonsense variant co-segregating with CMT in multiple affectedsCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 4F, 614895; Dejerine Sottas disease, autosomal recessive, 145900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
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)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
Ellen McDonagh (Genomics England Curator)
Is on the Charcot-Marie- Tooth disease type 1 / 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 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- 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, type 4F, OMIM:614895
- Dejerine-Sottas disease, OMIM:145900
- OMIM
- 605725
- Clinvar variants
- Variants in PRX
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PRX were set to 11157804; 10848494
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PRX were changed from Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895 to Charcot-Marie-Tooth disease, type 4F, OMIM:614895; Dejerine-Sottas disease, OMIM:145900
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PRX was added gene: PRX 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: PRX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRX were set to 11157804; 10848494 Phenotypes for gene: PRX were set to Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895