Skeletal Dysplasia_Fetal
Gene: LRP5

LRP5 (LDL receptor related protein 5)
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with multiple disorders. Some have congenital anomalies as a feature.
Created: 9 Feb 2020, 8:06 a.m. | Last Modified: 25 Jan 2022, 7:07 a.m.

Panel Version: 0.2770

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Osteoporosis-pseudoglioma syndrome, MIM# 259770; Polycystic liver disease 4 with or without kidney cysts, MIM# 617875

Created: 9 Feb 2020, 8:06 a.m.
Last Modified: 25 Jan 2022, 7:07 a.m.
Panel version: Imported from Fetal anomalies panel version 0.2770

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Genomics England PanelApp
Genetic Health Queensland
Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

603506

Clinvar variants

Variants in LRP5

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRP5 was added gene: LRP5 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRP5 was set to Unknown

Skeletal Dysplasia_Fetal Gene: LRP5