macarthur-lab / gnomad_browser

gnomAD browser pre-ASHG 2018
MIT License
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Need to update NDNL2 to NSMCE3 #136

Closed seplon closed 5 years ago

seplon commented 6 years ago

Not sure which category of error to select here. I brought this up a few years ago. We published a paper on the disease caused by mutations in then called NDNL2 and had HUGO change the gene name to NSMCE3. You reference GeneCards which now shows the gene change - https://www.genecards.org/cgi-bin/carddisp.pl?gene=NSMCE3&keywords=NSMCE3 But gnomAD still uses NDNL2 and does not allow searching by the correct name NSMCE3.

nawatts commented 5 years ago

Our current transcript annotations are based on Gencode v19. We plan on updating to a more recent Gencode version in a future gnomAD release.