Polycystic liver disease
Gene: LRP5EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Sources: Expert listCreated: 4 Aug 2020, 12:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver disease 4 with or without kidney cysts (617875)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Polycystic liver disease 4 with or without kidney cysts (617875)
- OMIM
- 603506
- Clinvar variants
- Variants in LRP5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Osteopetrosis
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Polycystic liver disease
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Renal Macrocystic Disease
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- Vitreoretinopathy
- Syndromic Retinopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LRP5 was added gene: LRP5 was added to Polycystic liver disease. Sources: Expert list Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP5 were set to 25920554 Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875) Review for gene: LRP5 was set to GREEN