Clinical-Genomics / scout

VCF visualization interface
https://clinical-genomics.github.io/scout
BSD 3-Clause "New" or "Revised" License
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Do not use ORPHA inheritance pattern on genes #4862

Closed dnil closed 1 week ago

dnil commented 1 week ago

Describe the bug It appears the mapping between gene and disease is not ideal for ORPHA disorders. We get all possible inheritance models for higher level ORPHA disorders connected to the genes. While correct at the disorder level, it can be rather misleading when presented on the gene or variant level:

To Reproduce Steps to reproduce the behavior:

  1. Go to a case
  2. Pin a variant in a gene with an ORPHA disorder
  3. Check the report
  4. See error

Expected behavior Let's check if this is a parsing issue, or if it is unavoidable with the higher level terms. If the latter, lets hide the inheritance patterns at least for ORPHA that are connected to more than one gene.

Screenshots

Screenshot 2024-09-17 at 10 24 30