Talk:Wilson's disease

Is there a genoset for Wilson's disease? It seems complex enough that one seems appropriate, to make its assessment repeatable and predictable. Thanks - ResearcherQ (talk) 20:25, 20 March 2017 (UTC)

Any reason in particular for suggesting a genoset, rather than going with the individual genotypes associated with this recessively inherited condition? Greg (talk) 23:36, 20 March 2017 (UTC)

I *think* it may just be a long list of SNPs or'd together, but I'm having a tough time finding: 1) an inclusive list of implicated SNPs, and 2) evidence that any or all combinations of them results in triggering the autosomal-recessive condition. Looks like a multi-month project -- seemed prudent to ask whether someone else had tackled it already. Thanks - ResearcherQ (talk) 00:07, 21 March 2017 (UTC)

It's possible to 'or' together a long list of heterozygous genotypes (or mutant alleles), but the vast majority of incoming data is still unphased, so you wouldn't know if the two distinct mutations were in cis or in trans. Separate issue: most are so rare that only a small % of the possible combinations have ever been seen, let alone published, so you have to just assume that at least when in trans, the (compound) heterozygotes will indeed be affected. But overall, especially because Wilson's is on the ClinGen Actionability list, we're interested in helping your project along. Are you willing to help SNPedia by working on this if we work up a template and/or pretty comprehensive list of mutations? And are there any relevant timing issues on your part to take into account? Greg (talk) 02:08, 21 March 2017 (UTC)