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Severe Paediatric Disorders

Gene: PMP22

Green List (high evidence)

PMP22 (peripheral myelin protein 22)
EnsemblGeneIds (GRCh38): ENSG00000109099
EnsemblGeneIds (GRCh37): ENSG00000109099
OMIM: 601097, Gene2Phenotype
PMP22 is in 8 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: PMP22; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, type 1A, 118220 (3) | Charcot-Marie-Tooth disease, type 1E, 118300 (3) | Dejerine-Sottas disease, 145900 (3) | ?Neuropathy, inflammatory demyelinating, 139393 (3) | Neuropathy, recurrent, with pressure palsies, 162500 (3) | Roussy-Levy syndrome, 180800 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal recessive, Autosomal dominant | ?Autosomal dominant | Autosomal dominant | 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 1E, 118300
  • ?Neuropathy, inflammatory demyelinating, 139393
  • Dejerine-Sottas disease, 145900
  • Roussy-Levy syndrome, 180800
  • Neuropathy, recurrent, with pressure palsies, 162500
  • Charcot-Marie-Tooth disease, type 1A, 118220
OMIM
601097
Clinvar variants
Variants in PMP22
Penetrance
None
Publications
Panels with this gene