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Mendeliome v1.2786 | WNT6 | Zornitza Stark Marked gene: WNT6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.2786 | WNT6 | Zornitza Stark Gene: wnt6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.2786 | WNT6 | Zornitza Stark Classified gene: WNT6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.2786 | WNT6 | Zornitza Stark Gene: wnt6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.2785 | WNT6 |
Zornitza Stark gene: WNT6 was added gene: WNT6 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: WNT6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WNT6 were set to 36385415; 25750203 Phenotypes for gene: WNT6 were set to recurrent pregnancy loss susceptibility, MONDO:0000144 Review for gene: WNT6 was set to AMBER Added comment: i) PMID: 36385415- heterozygous missense variant (p.Arg70Gly) in a female with recurrent pregnancy loss (C21) ii) PMID: 25750203- four novel heterozygous (checked Sanger traces) variants (i.e, one missense P.Leu148Arg, one synonymous c. 522C>T, one variant in intron 1 c. 297+40G>A, and one variant in the 3′UTR c. 1127G>A ) in 4 women with unexplained recurrent miscarriages (RM), but only the missense variant was shown to affect the functional region of WNT6 that might explain the unexplained RM In effect, only 2 cases with limited other supporting data, hence Amber. Sources: Expert list |