Inherited white matter disorders

Gene: PMP22

Red List (low evidence)

PMP22 (peripheral myelin protein 22)
EnsemblGeneIds (GRCh38): ENSG00000109099
EnsemblGeneIds (GRCh37): ENSG00000109099
OMIM: 601097, Gene2Phenotype
PMP22 is in 7 panels

0 reviews

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy,inflammatory demyelinating,139393
OMIM
601097
Clinvar variants
Variants in PMP22
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PMP22 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PMP22 was created by ellenmcdonagh