Closed AlistairNWard closed 3 years ago
Here are a couple of panels we could add (at Nebula's request):
Cancer panel APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, GREM1, HOXB13, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, TMEM127, TP53, TSC1, TSC2, VHL, WT1
Cardio panel ACTA2, ACTC1, ACTN2, ACVRL1, APOB, BAG3, BMPR2, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV1, CAV3, COL3A1, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, ENG, F2, F5, F9, FBN1, FHL1, FLNC, GDF2, GLA, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LAMP2, LDLR, LDLRAP1, LMNA, MYBPC3, MYH11, MYH7, MYL2, MYL3, MYLK, NKX2-5, PCSK9, PKP2, PLN, PRKAG2, PRKG1, PROC, PROS1, RBM20, RYR2, SCN5A, SERPINC1, SGCD, SMAD3, SMAD4, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, VCL
We should address this sooner, rather than later.
When selecting the gene panel, we should probably indicate the cancer and cardio panel we have added are supplied by Nebula. The little tag that sits on the gene list is ok as just e.g. cardio, but in the dropdown, maybe list it as Cardio panel (provided by Nebula Genomics? I know there was concern that we don't want to be responsible for the contents of the panels, so as long as we specify an origin, I think we'd be safe
@AlistairNWard , I misunderstood. So these 2 panels are Nebula specific? Then I should add meta data regarding when the gene panel shows in the dropdown. Thanks for noticing this.
They don't need to be Nebula specific, in that they can appear on prod gene.iobio. But there could be many cancer or cardio panels, so we should specify the origin of the panels we include. Marti could well ask for his own cardio panel of genes etc. and he'd need to be able to distinguish.
Cool. Is there any value to allowing site specific gene panels? I just added that functionality.
There probably is. If we get to a point where we are hosting lots of sets, this would probably be useful. But for now, it's probably ok to just make sure the name indicates the origin and make all panels available to everyone.
One minor typo. For the cardio panel, provided is missing a "d"
Oops! Thanks for catching this @AlistairNWard !
Fixed.
We currently allow users to select the ACMG59 genes from the vertical elipsis attached to gene entry:
Extend this to allow a user to pick from multiple sets of genes:
This is not a proposal to allow users to add their own sets of genes. We would manage the available sets.