PRX

periaxin
OMIM: 605725, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red PRX in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.8
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Congenital cataract
Red PRX in Fetal anomalies


Version 3.135
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Dejerine-Sottas disease, OMIM:145900
Green PRX in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476

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
  • Charcot-Marie-Tooth disease, type 4F, OMIM:614895
  • Dejerine-Sottas disease, OMIM:145900
Red PRX in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.453
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Charcot-Marie-Tooth disease, type 4F, OMIM:614895
    • Dejerine-Sottas disease, OMIM:145900
    Green PRX in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    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
    • Charcot-Marie-Tooth disease, type 4F, OMIM:614895
    • Dejerine-Sottas disease, OMIM:145900
    Green PRX in Severe Paediatric Disorders


    Version 1.182

    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