Cardiac arrhythmias - previous panel
Gene: LRP5EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 14 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- short qt
- OMIM
- 603506
- Clinvar variants
- Variants in LRP5
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Retinal disorders
- Bilateral congenital or childhood onset cataracts
- Ductal plate malformation
- Osteogenesis imperfecta
- Osteopetrosis
- Intellectual disability
- DDG2P
- Short QT syndrome
- Glaucoma (developmental)
- Fetal anomalies
- Polycystic liver disease
- Structural eye disease
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Eleanor Williams: Sources: Literature
Set mode of pathogenicity
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for gene: LRP5 was changed from to Other
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: LRP5 was added gene: LRP5 was added to Cardiac arrythmias. Sources: Expert Review Red Mode of inheritance for gene: LRP5 was set to Unknown Publications for gene: LRP5 were set to 30309679 Phenotypes for gene: LRP5 were set to short qt