Craniosynostosis

Gene: LRP5

Red List (low evidence)

LRP5 (LDL receptor related protein 5)
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 14 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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.

Eleanor Williams (Genomics England Curator)

I don't know

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.

Andrew Wilkie (University of Oxford)

Red List (low evidence)

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

Phenotypes
osteosclerosis

Publications

Mode of pathogenicity
Other

History Filter Activity

5 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to LRP5.

1 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

LRP5 was added to Craniosynostosis syndromespanel. Sources: Expert list