diff --git a/pages/panels_disease.md b/pages/panels_disease.md index 3d65fef..f39e657 100644 --- a/pages/panels_disease.md +++ b/pages/panels_disease.md @@ -21,18 +21,17 @@ The affected ACGM criteria are: PVS1, PS1, PM1, PP1, BVS1, BS1, BM1, BP1. A subsequent example is the ACMG classification step, PVS1, which is defined as a "null variant (nonsense, frameshift, canonical +- 2 splice sites, initiation codon, single or multiexon deletion) in a gene where LOF is a known mechanism of disease". -Thus to define a gene as beloging to a known disease meachnism we must use a stable and reliable soure of disease-genes. Read more here](acmg_criteria_table_main.html). - - +Thus to define a gene as belonging to a known disease mechanism we must use a stable and reliable source of disease-genes. +[Read more here](acmg_criteria_table_main.html). ## Current usage -1. **Human Inborn Errors of Immunity** +1. **Human inborn errors of immunity** * File: `10876_2022_1289_MOESM2_ESM_DLcleaned.tsv` * Source: via International Union of Immunological Societies (IUIS) Inborn Errors of Immunity Committee (IEI) () * Caveat: [Cleaning was implemented here](https://github.com/DylanLawless/genomics_tools/tree/master/iuis_iei_table) -1. **Likely inborn error of metabolis** +1. **Likely inborn error of metabolism** * File: `Likely_inborn_error_of_metabolism_targeted_testing_not_possible.tsv` * Source: * Caveat: None @@ -40,4 +39,4 @@ Thus to define a gene as beloging to a known disease meachnism we must use a sta 1. **Pending: All 451 panels of GE panel app** * File: `Not shown` * Source: [GE panel app](https://panelapp.genomicsengland.co.uk) via the [API](https://panelapp.genomicsengland.co.uk/api/docs/) - * Caveat: Login required - this database has been locally downloaded and processed for our pipelines. + * Caveat: Login required - this database has been locally downloaded and processed for our pipelines. This notice will be replaced when it is ready for use.