Activity

Filter

Cancel
Date Panel Item Activity
5 actions
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