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Clefting disorders

Gene: LRP6

Amber List (moderate evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

2 unrelated patients with orofacial clefting reported in two papers with LRP6 variants (p.Cys1532fs, p.?, and p.Arg1125*). no functional data.
Sources: Expert list
Created: 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

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrp6 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: lrp6 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 1

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