LRP5

LDL receptor related protein 5
OMIM: 603506, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green LRP5 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 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 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LRP5 in Mendeliome Version 2.0	1 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; Endocrine disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes osteoporosis-pseudoglioma syndrome MONDO:0009820
Green LRP5 in Osteopetrosis Level 2: Skeletal disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant osteopetrosis 1 MONDO:0011877
Red LRP5 in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 1.0	2 reviews	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 2.0	1 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 1.0	1 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 1.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources RetNet Expert Review Green Phenotypes Exudative vitreoretinopathy 4
Green LRP5 in Vitreoretinopathy Level 2: Ophthalmological disorders Version 2.0	2 reviews	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 1.0	0 reviews	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 2.0	1 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 1.0	0 reviews	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 2.0	1 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 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Exudative vitreoretinopathy 4 MIM#601813 Osteoporosis-pseudoglioma syndrome MIM#259770
Green LRP5 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	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 Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal dominant 1, MIM# 607634