Gene Symbol:
MPZ
HGNC:7225
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q23.3
Filters:

Definitive classifications

Charcot-Marie-Tooth disease type 1B
Submitted as: OMIM:118200
AD
06/01/2020
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
Charcot-Marie-Tooth disease
AD
08/25/2020
Evaluated
10/18/2023
Submitted
neuropathy, congenital hypomyelinating, 2
Submitted as: OMIM:618184
AD
06/23/2020
Evaluated
09/11/2023
Submitted

Strong classifications

Charcot-Marie-Tooth disease type 1B
Submitted as: OMIM:118200
AD
01/10/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

Charcot-Marie-Tooth disease type 3
Submitted as: Orphanet:64748
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 2I
Submitted as: Orphanet:99942
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 2J
Submitted as: Orphanet:99943
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease dominant intermediate D
Submitted as: Orphanet:100046
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Charcot-Marie-Tooth disease type 1B
Submitted as: Orphanet:101082
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Submitted as: Orphanet:324585
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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