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Skeletal dysplasia

Gene: LRP6

Red List (low evidence)

LRP6 (LDL receptor related protein 6)
EnsemblGeneIds (GRCh38): ENSG00000070018
EnsemblGeneIds (GRCh37): ENSG00000070018
OMIM: 603507, Gene2Phenotype
LRP6 is in 6 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tooth agenesis, selective, 7 - MIM#616724

Publications

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Split-hand/foot malformation currently not a linked phenotype in OMIM

PMID: 31332306 - 1 family with Split-hand/foot malformation, paternally inherited PTC. Variant described as likely pathogenic, father is not described as affected. Homozygous knockout mice also share this phenotype

AMBER - single report
Created: 20 Apr 2020, 5:36 a.m. | Last Modified: 20 Apr 2020, 5:36 a.m.
Panel Version: 0.15

Phenotypes
{Coronary artery disease, autosomal dominant, 2} 610947; Tooth agenesis, selective, 7 616724; Split-hand/foot malformation

Publications

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRP6 was added gene: LRP6 was added to Skeletal dysplasia. Sources: Expert Mode of inheritance for gene: LRP6 was set to