LRP5

LDL receptor related protein 5
OMIM: 603506, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green LRP5 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	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
Green LRP5 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LRP5 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exudative vitreoretinopathy 4, MIM# 601813 Osteopetrosis, autosomal dominant 1, MIM# 607634 Osteoporosis-pseudoglioma syndrome, MIM# 259770 Osteosclerosis, MIM# 144750 Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Green LRP5 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LRP5 in Osteopetrosis Level 2: Skeletal disorders Version 0.34	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red LRP5 in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 0.69 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Red LRP5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Exudative vitreoretinopathy 4, MIM# 601813 Hyperostosis, endosteal, MIM# 144750 Osteopetrosis, autosomal dominant 1, MIM# 607634 Osteoporosis-pseudoglioma syndrome, MIM# 259770 Osteosclerosis, MIM# 144750 Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 van Buchem disease, type 2 607636
Green LRP5 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert NHS GMS Emory Genetics Laboratory Phenotypes Exudative vitreoretinopathy 4 601813 Osteoporosis-pseudoglioma syndrome 259770 [Bone mineral density variability 1] 601884 {Osteoporosis} 166710 van Buchem disease, type 2 607636 Osteopetrosis, autosomal dominant 1 607634 Hyperostosis, endosteal 144750 Osteosclerosis 144750
Green LRP5 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources RetNet Expert Review Green Phenotypes Exudative vitreoretinopathy 4
Green LRP5 in Vitreoretinopathy Level 2: Ophthalmological disoders Version 1.4 Component of the following Super Panels: Retinal Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Exudative vitreoretinopathy 4, MIM# 601813
Green LRP5 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteoporosis-pseudoglioma syndrome, 259770 (3)
Green LRP5 in Polycystic liver disease Level 2: Gastroenterological disorders Version 1.8 Component of the following Super Panels: Liverome Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic liver disease 4 with or without kidney cysts (617875)
Green LRP5 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis, autosomal dominant Osteoporosis-pseudoglioma syndrome
Green LRP5 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Osteoporosis-pseudoglioma syndrome, MIM# 259770 Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Green LRP5 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteoporosis-pseudoglioma syndrome, 259770 (3)
Green LRP5 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Osteoporosis-pseudoglioma syndrome, MIM# 259770 Tags treatable skeletal
Green LRP5 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal dominant 1, MIM# 607634