Macrocephaly_Megalencephaly
Gene: LRP5
LRP5 (LDL receptor related protein 5)
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 17 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 603506
- Clinvar variants
- Variants in LRP5
- Penetrance
- None
- 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
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 Macrocephaly/Megalencephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRP5 was set to Unknown