Preconfigured Gene panels

Analyses in ella are restricted to genes included in predefined gene panels. These must be configured separately as part of department procedures, and no configuration is done within ella itself. In addition to specifying which genes to analyse, the following information is currently configured:

Setting Options Defaults
Inheritance* Autosomal dominant (AD), autosomal recessive (AR), X-linked dominant (XD) or X-linked recessive (XR) -
Phenotypes* Which disease mutations in the gene have been associated with (restricted to diseases investigated at AMG). -
Frequency cutoff The population frequency thresholds for ACMG criterion BA1 and BS1, separate for internal/external datasets. External: 0.001/0.005
Internal: 1/0.05
Disease mode Whether only missense (MISS) or loss of function (LOF) mutations, or both (ANY), are expected to cause disease in the gene. ANY
Last exon Whether the last exon is important (LEI) or not (LENI). LEI
Gene information Information relevant to evaluation of more/all variants in a gene. -

*Configured using OMIM and manual curation

The information provided in the gene panel is visible by clicking on the gene name in the top bar of the CLASSIFACTION page.

Last Updated: 11/9/2018, 1:11:56 PM