Scout: partial causative function

[4WGH]

I wish to use partially causative

What can i do if there are not OMIM or HPO that are appropriate?

can we have a free text option? Or the possibility to select the partially causative without being forced to write an explanation?

[northwestwitch]

The idea of the partial causative was that the variant could explain the phenotype/diagnosis only in part. Or that was causing a side phenotype of sort. It makes sense to me that it is linked to a phenotype, even if it's not the main phenotype of the patient. What is it causing otherwise 🤔 ?

[4WGH]

HPO do not cover everything! As you know even in ClinVar submission OMIM and HPO are not engouh sometime :)

So to be able to use partial causative with free text would be helpfull :)

[northwestwitch]

Mmm I don't like much the free text option, as it's not really informative when for instance collecting phenotype info from the database data. And I think it is also redundant as there is already a "comments" field to describe the variant, so you could use that instead. The comments field has also the advantage that if you make the comment global it can be seen in other cases, so it's more helpful in general.

I think the real option would be to make the OMIM/HPO term non-mandatory.

[dnil]

Also know that the HPO project accept PRs and suggestions for new terms, so the global best scenario is that you submit the terms you need to them, and we can import them? 😊 I realise that is slower..

[dnil]

Here: https://github.com/obophenotype/human-phenotype-ontology/issues

[4WGH]

the non-mandatory option would be optimal :)