Update ACMG genes - Githubissues

AlistairNWard commented 3 years ago

ACMG updated the list of secondary findings genes to 73 (Genetics in Medicine (2021) 23:1381–1390; https://doi.org/10.1038/s41436-021-01172-3)

[ ] Change the name of ACMG 59 in the gene list to ACMG SF v3.0 (73)
[ ] Update the list to the 73 genes
[ ] What would be a good process for keeping this list up-to-date? ACMG expects to update the list annually every January

ACTA2 ACTC1 ACVRL1 APC APOB ATP7B BMPR1A BRCA1 BRCA2 BTD CACNA1S CASQ2 COL3A1 DSC2 DSG2 DSP ENG FBN1 FLNC GAA GLA HFE HNF1A KCNH2 KCNQ1 LDLR LMNA MAX MEN1 MLH1 MSH2 MSH6 MUTYH MYBPC3 MYH11 MYH7 MYL2 MYL3 NF2 OTC PALB2 PCSK9 PKP2 PMS2 PRKAG2 PTEN RB1 RET RPE65 RYR1 RYR2 SCN5A SDHAF2 SDHB SDHC SDHD SMAD3 SMAD4 STK11 TGFBR1 TGFBR2 TMEM127 TMEM43 TNNI3 TNNT2 TP53 TPM1 TRDN TSC1 TSC2 TTN VHL WT1

mvelinder commented 3 years ago

Do they publish them at an expected URL or file location? I have not seen that. I've only seen the gene names in a publication that we have to manually grab. Obviously it'd be easier if they had an http://acmg.org/acmg-list/current.genes.txt or something easy to grab

AlistairNWard commented 3 years ago

Not to my knowledge. They just want to publish annually, but January was as committed as they got.

tonydisera commented 3 years ago

fixed gene_4.6.2_2021-09-28

iobio / gene.iobio

Update ACMG genes #794