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Do not use ORPHA inheritance pattern on genes #4862

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dnil opened this issue Sep 17, 2024 · 0 comments
Closed

Do not use ORPHA inheritance pattern on genes #4862

dnil opened this issue Sep 17, 2024 · 0 comments
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@dnil
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dnil commented Sep 17, 2024

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
@dnil dnil self-assigned this Sep 17, 2024
dnil added a commit that referenced this issue Sep 17, 2024
@dnil dnil closed this as completed in 0bc179b Sep 18, 2024
dreamweaver-cell pushed a commit to gmc-norr/scout that referenced this issue Oct 9, 2024
…cal-Genomics#4863)

* Fix Clinical-Genomics#4862 - ORPHA inheritance patterns hidden

* use import only for css colors

* whitespace

* update tooltip

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Co-authored-by: Chiara Rasi <rasi.chiara@gmail.com>
dreamweaver-cell pushed a commit to dreamweaver-cell/scout that referenced this issue Oct 13, 2024
…cal-Genomics#4863)

* Fix Clinical-Genomics#4862 - ORPHA inheritance patterns hidden

* use import only for css colors

* whitespace

* update tooltip

---------

Co-authored-by: Chiara Rasi <rasi.chiara@gmail.com>
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