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  3. LRP5
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Fetal anomalies

Gene: LRP5

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: In original PAGE file, mode of inheritance was recorded as biallelic for 'OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME' and monoallelic for 'HIGH BONE MASS TRAIT', 'OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1', 'ENDOSTEAL HYPEROSTOSIS WORTH TYPE' and 'VITREORETINOPATHY EXUDATIVE TYPE 4'. Changed inheritance to 'biallelic' only following clinical review.
Created: 24 Mar 2019, 8:33 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on panel with biallelic mode of inheritance only. Action taken: Changed mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for HIGH BONE MASS TRAIT, Confirmed for OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, Confirmed for ENDOSTEAL HYPEROSTOSIS WORTH TYPE, Confirmed for VITREORETINOPATHY EXUDATIVE TYPE 4 and Confirmed for OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Activating for HIGH BONE MASS TRAIT and ENDOSTEAL HYPEROSTOSIS WORTH TYPE, and listed as Uncertain for OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1. MOP listed as LOF for VITREORETINOPATHY EXUDATIVE TYPE 4 and OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • VITREORETINOPATHY EXUDATIVE TYPE 4
  • OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
  • ENDOSTEAL HYPEROSTOSIS WORTH TYPE
  • OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1
  • HIGH BONE MASS TRAIT
OMIM
603506
Clinvar variants
Variants in LRP5
Penetrance
None
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

24 Mar 2019, Gel status: 4

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME for gene: LRP5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 for gene: LRP5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ENDOSTEAL HYPEROSTOSIS WORTH TYPE for gene: LRP5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 for gene: LRP5

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: LRP5 was added gene: LRP5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT