Gene Symbol:
PMP22
HGNC:9118
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17p12
Filters:

Definitive classifications

Charcot-Marie-Tooth disease type 1A
Submitted as: OMIM:118220
AD
08/30/2018
Evaluated
03/02/2021
Submitted
hereditary neuropathy with liability to pressure palsies
Submitted as: OMIM:162500
AD
08/31/2018
Evaluated
03/02/2021
Submitted
Charcot-Marie-Tooth disease type 1A
Submitted as: OMIM:118220
AD
06/25/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Moderate classifications

Charcot-Marie-Tooth disease type 1E
Submitted as: OMIM:118300
AD
10/09/2020
Evaluated
11/09/2020
Submitted
Charcot-Marie-Tooth disease type 1E
Submitted as: OMIM:118300
AD
08/30/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

hereditary neuropathy with liability to pressure palsies
Submitted as: Orphanet:640
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 3
Submitted as: Orphanet:64748
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 1E
Submitted as: Orphanet:90658
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 1A
Submitted as: Orphanet:101081
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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