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panel typos
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DylanLawless committed Jan 10, 2025
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Expand Up @@ -21,23 +21,22 @@ 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: <https://lawlessgenomics.com/topic/iuis-iei-table-page> via International Union of Immunological Societies (IUIS) Inborn Errors of Immunity Committee (IEI) (<https://iuis.org>)
* 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: <https://panelapp.genomicsengland.co.uk/panels/467/>
* Caveat: None

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.

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