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monarch-initiative / phenopacket-store

Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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SMARCB1 -- Rhabdoid tumor predisposition syndrome 1 -- no variants #26

Closed pnrobinson closed 9 months ago

pnrobinson commented 1 year ago

PMID_34101994_and_33470921 I cannot get access to the original papers, but am wondering if the variants are available -- if so, we could also use this for genotype phenotype analysis.

ldingemans commented 1 year ago

with regard to PMID 34101994: the paper only mentions a gain in exon 6, but no breakpoints etc https://onlinelibrary.wiley.com/doi/epdf/10.1002/pbc.29185

for PMID 33470921 (https://journals.sagepub.com/doi/epub/10.1177/1093526620986492), a variant was reported (c.501-1G>A), but the pathogenicity was not certain, de novo status was unknown etc. But if we include the patient, would probably be good to include the variant as well indeed?

pnrobinson commented 9 months ago

this is fixed