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tonydisera / gene.iobio

An iobio app for examining gene variants
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Update ACMG genes #541

Closed AlistairNWard closed 7 years ago

AlistairNWard commented 7 years ago

The ACMG gene list has been updated and we should be up to date.

  1. Remove MYLK
  2. Add ATP7B, BMPR1A, SMAD4, OTC
  3. Link to paper: http://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016190a.html
AlistairNWard commented 7 years ago

We should additionally include the ACMG version number, since they have agreed on versioning nomenclature. When these updates are included, we are at v2.0.

tonydisera commented 7 years ago

I updated the gene list, removed the '56' notation, and added the citation under 'Software and Resoures'. Also, the Version dialog now shows ACMG v2

AlistairNWard commented 7 years ago

Make sure it's v2.0, just in case we miss a 2.1 update and become ambiguous.

tonydisera commented 7 years ago

Yep. I just checked.