Clefting disorders
Gene: LRP6EnsemblGeneIds (GRCh38): ENSG00000070018
EnsemblGeneIds (GRCh37): ENSG00000070018
OMIM: 603507, Gene2Phenotype
LRP6 is in 6 panels
1 review
Chirag Patel (Genetic Health Queensland)
2 unrelated patients with orofacial clefting reported in two papers with LRP6 variants (p.Cys1532fs, p.?, and p.Arg1125*). no functional data.
Sources: Expert listCreated: 1 Feb 2021, 12:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cleft lip; cleft palate; tooth agenesis; oligodontia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- cleft lip
- cleft palate
- tooth agenesis
- oligodontia
- OMIM
- 603507
- Clinvar variants
- Variants in LRP6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: LRP6 was added gene: LRP6 was added to Clefting_GEL. Sources: Expert list Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP6 were set to PMID: 29500247, 26963285 Phenotypes for gene: LRP6 were set to cleft lip; cleft palate; tooth agenesis; oligodontia Review for gene: LRP6 was set to AMBER