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Intellectual disability syndromic and non-syndromic

Gene: LRP5

Red List (low evidence)

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)

Red List (low evidence)

ID generally normal in all of these conditions.
Created: 9 Feb 2020, 8:06 a.m. | Last Modified: 9 Feb 2020, 8:06 a.m.
Panel Version: 0.2077

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
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
OMIM
603506
Clinvar variants
Variants in LRP5
Penetrance
None
Panels with this gene

History Filter Activity

9 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRP5 were changed from 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 to 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

9 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrp5 has been classified as Red List (Low Evidence).

9 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRP5 were changed from to 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

9 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRP5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrp5 has been classified as Red List (Low Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LRP5 was set to Unknown