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Clefting disorders v0.44 LRP6 Zornitza Stark Marked gene: LRP6 as ready
Clefting disorders v0.44 LRP6 Zornitza Stark Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.39 LRP6 Chirag Patel Classified gene: LRP6 as Amber List (moderate evidence)
Clefting disorders v0.39 LRP6 Chirag Patel Gene: lrp6 has been classified as Amber List (Moderate Evidence).
Clefting disorders v0.38 LRP6 Chirag Patel 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
Added comment: 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