Gene Symbol:
LRP5
HGNC:6697
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11q13.2
Filters:

Definitive classifications

autosomal dominant osteopetrosis 1
Submitted as: OMIM:607634
AD
07/22/2015
Evaluated
09/11/2023
Submitted
autosomal dominant osteosclerosis, Worth type
Submitted as: OMIM:144750
AD
07/22/2015
Evaluated
09/11/2023
Submitted
exudative vitreoretinopathy 4
Submitted as: OMIM:601813
AD
07/22/2015
Evaluated
09/11/2023
Submitted
osteoporosis-pseudoglioma syndrome
Submitted as: OMIM:259770
AR
07/22/2015
Evaluated
09/11/2023
Submitted
exudative vitreoretinopathy 4
Submitted as: OMIM:601813
SD
02/20/2017
Evaluated
03/02/2021
Submitted
osteoporosis-pseudoglioma syndrome
Submitted as: OMIM:259770
AR
02/20/2017
Evaluated
03/02/2021
Submitted
bone mineral density quantitative trait locus 1
Submitted as: OMIM:601884
AD
07/22/2015
Evaluated
09/11/2023
Submitted
inherited retinal dystrophy
AR
03/02/2023
Evaluated
10/18/2023
Submitted

Strong classifications

exudative vitreoretinopathy 4
Submitted as: OMIM:601813
AD
10/11/2022
Evaluated
11/30/2023
Submitted
osteoporosis-pseudoglioma syndrome
Submitted as: OMIM:259770
AR
08/27/2023
Evaluated
11/30/2023
Submitted
autosomal dominant osteosclerosis, Worth type
Submitted as: OMIM:144750
AD
05/04/2023
Evaluated
11/30/2023
Submitted
polycystic liver disease 4 with or without kidney cysts
Submitted as: OMIM:617875
AD
04/30/2018
Evaluated
11/30/2023
Submitted
exudative vitreoretinopathy 4
Submitted as: OMIM:601813
Unknown
05/16/2020
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
autosomal dominant osteosclerosis, Worth type
Submitted as: OMIM:144750
AD
09/21/2020
Evaluated
03/31/2021
Submitted
polycystic liver disease 4 with or without kidney cysts
Submitted as: OMIM:617875
AD
01/14/2021
Evaluated
03/31/2021
Submitted

Moderate classifications

autosomal dominant osteopetrosis 1
Submitted as: OMIM:607634
AD
11/04/2019
Evaluated
03/02/2021
Submitted

Supportive classifications

osteoporosis-pseudoglioma syndrome
Submitted as: Orphanet:2788
AR
09/14/2021
Evaluated
09/14/2021
Submitted
polycystic liver disease 1
Submitted as: Orphanet:2924
AD
09/14/2021
Evaluated
09/14/2021
Submitted
hyperostosis corticalis generalisata
Submitted as: Orphanet:3416
AD
09/14/2021
Evaluated
09/14/2021
Submitted
exudative vitreoretinopathy
Submitted as: Orphanet:891
AD
09/14/2021
Evaluated
09/14/2021
Submitted
osteosclerosis-developmental delay-craniosynostosis syndrome
Submitted as: Orphanet:178377
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant osteopetrosis 1
Submitted as: Orphanet:2783
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant osteosclerosis, Worth type
Submitted as: Orphanet:2790
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

polycystic liver disease 4 with or without kidney cysts
AD
08/12/2020
Evaluated
10/18/2023
Submitted

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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.