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Some(?) genes not uploaded if no phenotype in OMIM
See original GitHub issueWe noticed during panel upload of MitoCarta that four genes were missing from the Scout db. They share the distinction of being present in HGNC since quite some time (and in an archive hgnc.txt I happened to have since a few updates back), in OMIM (present in genemap2.txt), but lacking a phenotype, so NOT in e.g. genes_to_penotype.txtor phenotype_to_genes.txt or mim2genes.txt. Perhaps we take a shortcut too much somewhere, assuming genes present in OMIM are also in one or more of those?
Gene symbols to test with: PIGBOS1, HTD2, PLSCR3 and SELENOO.
Issue Analytics
- State:
- Created 2 years ago
- Comments:6 (2 by maintainers)
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Now that I’ve downloaded the resource files: ensembl_genes_37.txt and ensembl_genes_38.txt I can see that the 4 genes mentioned in the comment above are present only in the latter.
Also 3) missing from a database with only 37 genes loaded. Explicitly loading build 38 populates them! 👍