WebAs part of an effort to identify genomic regions that are unlikely to be dosage sensitive, ClinGen queried the gnomAD structural variant (SV) v2.1 data set (PMID: 32461652) for variants meeting the following criteria: passed gnomAD quality filters, characterized as either a deletion or duplication, >1kb in size, includes at least one gene, and present at an … WebTriplosensitivity: Under Primary Review Related Links: 7q11.23 recurrent distal region (includes HIP1, YWHAG) Last Evaluated: Under Primary Review Haploinsufficiency (HI) Score Details. Review not yet complete. Triplosensitivity (TS) Score Details. Review not yet complete. Genomic View ...
ClinGen Dosage Sensitivity FTP Download Files Update - ClinGen ...
WebApr 3, 2024 · Clinical resource with information about NLGN3, A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer., Autism, susceptibility to, X-linked 1, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov. WebTriplo Score Dosage Sensitivity Summary (Gene) Dosage ID: ISCA-33626 View legacy report... Curation Status: Complete Issue Type: Dosage Curation - Gene Haploinsufficiency: Sufficient Evidence for Haploinsufficiency (3) Read full report... Triplosensitivity: No Evidence for Triplosensitivity (0) Read full report... Last Evaluated: 01/24/2024 jamestown commercial management company
A cross-disorder dosage sensitivity map of the human genome
WebGet Started; About Us. About ClinGen; ClinGen & ClinVar Partnership; ClinGen, CPIC and PharmGKB Partnership ; ClinGen Job Opportunities; ClinGen Terms of Use WebAug 21, 2024 · As discussed previously, duplications less than 500 kb are reported at the Mayo Clinic when (1) one or more genes fully contained within the interval has … jamestown commercial cleaning company