clingen-data-model / allele

Documentation for data model of ClinGen
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Terms for mode of inheritance #158

Closed cbizon closed 3 years ago

cbizon commented 8 years ago

The Gene Curation Working Group has a list of terms for mode of inheritance, which appears to have originated in GTR.

There are a couple of problems with this list:

1) We would like that the terms in our list come from an external controlled vocabulary or ontology. Most of the terms in the GTR list come from HPO, but there are a few terms that do not. Codominance and autosomal unknown are probably the most important, since there are ClinVar entries that use these terms.

2) It includes a couple of terms that we are not too sure we would like to call modes of inheritance, In particular "Sporadic" and "genetic anticipation".

The list needs to go back to the Gene Curation group to chew over, and see what they want to do about these terms. My guess is that we will end up with at least some terms that are not in HPO, but perhaps there is another ontology?