Documentation

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Publication Details

Results for Sleyp2022:

Summary

Title	De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Authors	Sleyp, Y., Valenzuela, I., Accogli, A., Ballon, K., Ben-Zeev, B., Berkovic, S.F., Broly, M., Callaerts, P., Caylor, R.C., Charles, P., Chatron, N., Cohen, L., Coppola, A., Cordeiro, D., Cuccurullo, C., Cuscó, I., diMonda, J., Duran-Romaña, R., Ekhilevitch, N., Fernández-Alvarez, P., Gordon, C.T., Isidor, B., Keren, B., Lesca, G., Maljaars, J., Mercimek-Andrews, S., Morrow, M.M., Muir, A.M., Rousseau, F., Salpietro, V., Scheffer, I.E., Schnur, R.E., Schymkowitz, J., Souche, E., Steyaert, J., Stolerman, E.S., Vengoechea, J., Ville, D., Washington, C., Weiss, K., Zaid, R., Sadleir, L.G., Mefford, H.C., Peeters, H.
Technology	WGS, WES and targeted but only KLHL20 variants reported
Variant source	Tables 1 and 2
Cohorts	Matchmaker Exchange
Design	simplex
URL	https://dx.doi.org/doi.org/10.1016/j.gim.2022.08.020
Pubmed	36214804
Subject count	3 The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count	3
Curation notes	View

Breakdown by exonic function

Function	Variant Count
nonsynonymous SNV	3

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.