allenbaron
commented
1 year ago Makes sense to me. I'm going to add Mirhadi et al. (2020) as a reference on the definition and add a comment explaining the obsoletion. That way if better evidence should arise to support SNAI2 as a pathogenic variant we can more easily find this and resurrect it.... though this seems unlikely.
I'll also update piebaldism (DOID:3263) so it no longer references SNAI2 in the definition. Perhaps I'll add a comment there as well.
Waardenburg syndrome type 2D (DOID:0110952)
OMIM has merged the entry for type 2D into the description for type 2A with the comment:
"A form of WS2, designated WS2D, was thought to be caused by deletion of the SNAI2 gene (602150.0001), but the deletion has been reclassified as a variant of unknown significance."
Based on this I think DO should obsolete the 2D term