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
10/18/2023
Submitted
Pelizaeus-Merzbacher disease
Submitted as: OMIM:312080
XL
07/22/2015
Evaluated
09/11/2023
Submitted
hereditary spastic paraplegia 2
Submitted as: OMIM:312920
XL
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

Pelizaeus-Merzbacher disease
Submitted as: OMIM:312080
XL
04/08/2021
Evaluated
11/30/2023
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

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