Gene Symbol:
PLEC
HGNC:9069
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8q24.3
Filters:

Strong classifications

autosomal recessive limb-girdle muscular dystrophy type 2Q
Submitted as: OMIM:613723
AR
07/22/2015
Evaluated
09/11/2023
Submitted
epidermolysis bullosa simplex with nail dystrophy
Submitted as: OMIM:616487
AR
02/13/2021
Evaluated
03/09/2021
Submitted
epidermolysis bullosa simplex 5C, with pyloric atresia
Submitted as: OMIM:612138
AR
02/07/2023
Evaluated
11/30/2023
Submitted
pidermolysis bullosa simplex 5A, Ogna type
Submitted as: OMIM:131950
AD
02/11/2022
Evaluated
11/30/2023
Submitted
pidermolysis bullosa simplex 5A, Ogna type
Submitted as: OMIM:131950
AD
10/15/2020
Evaluated
03/31/2021
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2Q
Submitted as: OMIM:613723
AR
07/06/2020
Evaluated
11/30/2023
Submitted
pidermolysis bullosa simplex 5A, Ogna type
Submitted as: OMIM:131950
AD
02/13/2021
Evaluated
03/09/2021
Submitted
epidermolysis bullosa simplex 5B, with muscular dystrophy
Submitted as: OMIM:226670
AR
10/26/2020
Evaluated
12/30/2020
Submitted
congenital myasthenic syndrome
AR
01/29/2021
Evaluated
03/31/2021
Submitted
epidermolysis bullosa simplex 5C, with pyloric atresia
Submitted as: OMIM:612138
AR
10/15/2020
Evaluated
03/31/2021
Submitted
epidermolysis bullosa simplex 5B, with muscular dystrophy
Submitted as: OMIM:226670
AR
10/15/2020
Evaluated
03/31/2021
Submitted

Moderate classifications

autosomal recessive limb-girdle muscular dystrophy
AR
06/19/2023
Evaluated
10/18/2023
Submitted

Supportive classifications

epidermolysis bullosa simplex 5B, with muscular dystrophy
Submitted as: Orphanet:257
AR
09/14/2021
Evaluated
09/14/2021
Submitted
pidermolysis bullosa simplex 5A, Ogna type
Submitted as: Orphanet:79401
AD
09/14/2021
Evaluated
09/14/2021
Submitted
epidermolysis bullosa simplex 5C, with pyloric atresia
Submitted as: Orphanet:158684
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive limb-girdle muscular dystrophy type 2Q
Submitted as: Orphanet:254361
AR
09/14/2021
Evaluated
09/14/2021
Submitted
aplasia cutis congenita
Submitted as: Orphanet:1114
AD
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.