Gene Symbol:
PLP1
HGNC:9086
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq22.2
Filters:

Definitive classifications

Pelizaeus-Merzbacher disease
Submitted as: OMIM:312080
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
hereditary spastic paraplegia 2
Submitted as: OMIM:312920
XLR
07/22/2015
Evaluated
11/25/2020
Submitted
Pelizaeus-Merzbacher disease
Submitted as: OMIM:312080
XL
03/05/2018
Evaluated
03/02/2021
Submitted
Pelizaeus-Merzbacher disease
XL
03/07/2018
Evaluated
08/16/2021
Submitted

Strong classifications

Pelizaeus-Merzbacher disease
Submitted as: OMIM:312080
XL
11/09/2020
Evaluated
12/24/2021
Submitted

Moderate classifications

hereditary spastic paraplegia 2
Submitted as: OMIM:312920
XL
10/06/2020
Evaluated
03/02/2021
Submitted

Supportive classifications

hereditary spastic paraplegia 2
Submitted as: Orphanet:99015
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Pelizaeus-Merzbacher disease, connatal form
Submitted as: Orphanet:280210
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Pelizaeus-Merzbacher disease, classic form
Submitted as: Orphanet:280219
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Pelizaeus-Merzbacher disease, transitional form
Submitted as: Orphanet:280224
XL
09/14/2021
Evaluated
09/14/2021
Submitted
Pelizaeus-Merzbacher disease in female carriers
Submitted as: Orphanet:280229
XL
09/14/2021
Evaluated
09/14/2021
Submitted
XL
09/14/2021
Evaluated
09/14/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.