A214T reported in one extended family with AD osteosclerosis - 4FMs reported with CSS, others have macrocephaly/brachycephaly. Other variants not associated with CSS? ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LRP5; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
p.Ala214Thr segregating in one family with osteosclerosis. Mutation is gain of function. Several other heterozygous mutations in LRP5 are associated with osteosclerosis without craniosynostosis, and recessive mutations cause osteoporosis-pseudoglioma syndrome and exudative vitreoretinopathy. Only the specific A214T or other osteosclerosis-related mutation should be considered causative.
Created: 15 Sep 2015, 7:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Source NHS GMS was added to LRP5.
This gene has been classified as Red List (Low Evidence).
LRP5 was added to Craniosynostosis syndromespanel. Sources: Expert list