PRX

periaxin
OMIM: 605725, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red PRX in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.58
Signed off v.2.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Congenital cataract

Red PRX in Fetal anomalies


Version 1.162
Signed off v.1.92 on 21 Aug 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Charcot-Marie-Tooth disease, type 4F 614895
  • Dejerine-Sottas disease 145900

Green PRX in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dejerine Sottas disease, autosomal recessive, 145900
  • Charcot Marie Tooth disease, type 4F, 614895
  • Dejerine Sottas disease, autosomal recessive, 145900

Red PRX in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.714
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Dejerine-Sottas disease, 145900
    • Charcot-Marie-Tooth disease, type 4F, 614895

    Green PRX in Hereditary neuropathy NOT PMP22 copy number


    Version 1.19
    Signed off v.1.2 on 27 Feb 2020

    review 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
    • Dejerine Sottas disease, autosomal recessive, 145900
    • Charcot Marie Tooth disease, type 4F, 614895

    Green PRX in Severe Paediatric Disorders


    Version 1.42

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4F, 614895
    • Dejerine-Sottas disease, 145900