search

ClinGen / clincoded

This GCI/VCI 1.0 platform has now been retired, and replaced with our new 2.0 platform:
https://github.com/ClinGen/gene-and-variant-curation-tools/issues
MIT License
25 stars 9 forks source link

Change MONDO ID for INS GDM #2219

Closed wrightmw closed 3 years ago

wrightmw commented 4 years ago

We have a request from the Monogenic Diabetes GCEP to change a current MonDO ID for the gene INS for autosomal recessive inheritance.

The UUID for the curation is: https://curation.clinicalgenome.org/curation-central/?gdm=76f6c4d1-9e73-4295-bad6-890204295d7b&pmid=31441606

The current MonDO ID is permanent neonatal diabetes mellitus (MONDO:0011643)

We would like to change this to monogenic diabetes (MONDO:0015967).

You can do this on the record alone and not change any of the monDO Ids associated with any individual, group, or family.

bryanwulf commented 4 years ago

The disease on the gene-disease record has been updated.

cgpreston commented 4 years ago

We have another request:

Could you please change the disease association with LAMC3 in the GCI from Autism spectrum disorder MONDO:0005258 to Complex neurodevelopmental disorder MONDO:0100038?

https://curation.clinicalgenome.org/curation-central/?gdm=72b0c693-2a6d-4685-bba4-5739689faeda&pmid=23263632

cgpreston commented 3 years ago

Thanks @bryanwulf for updating the first request, the second request was merged into #2194