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16p11.2 #1001

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eatyourpeas opened this issue Jun 20, 2024 · 1 comment · Fixed by #1002
Closed

16p11.2 #1001

eatyourpeas opened this issue Jun 20, 2024 · 1 comment · Fixed by #1002
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feature request This is a desirable feature

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Add16p11.2 to list of epilepsy causes
@eatyourpeas eatyourpeas added the feature request This is a desirable feature label Jun 20, 2024
@mbarton
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mbarton commented Jun 20, 2024 •
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Copying across discussion from an internal email thread by @eatyourpeas

@coldunk, 16p11.2 microdeletions are either proximal or distal. You can also delete the whole locus (16p11.2 deletion syndrome) and you can have the opposite, that is microduplications.

  • 16p11.2 deletion syndrome is 699307007
  • 16p11.2 proximal microdeletion syndrome 718227006
  • 16p11.2 distal microdeletion syndrome 733521003
  • 16p11.2 microduplication syndrome 765142003

Can I check you are after the first one, or should we include any of the others?

@eatyourpeas eatyourpeas self-assigned this Jun 22, 2024
@eatyourpeas eatyourpeas mentioned this issue Jun 22, 2024
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16p11.2 rcpch/rcpch-audit-engine
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@mbarton @eatyourpeas