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Severe Paediatric Disorders

Gene: PRX

Green List (high evidence)

PRX (periaxin)
EnsemblGeneIds (GRCh38): ENSG00000105227
EnsemblGeneIds (GRCh37): ENSG00000105227
OMIM: 605725, Gene2Phenotype
PRX is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PRX; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, type 4F, 614895 (3) | Dejerine-Sottas disease, 145900 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
605725
Clinvar variants
Variants in PRX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PRX were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheri