No F5, VKORC1 genes in recommendations

[MateuszMarynowski]

Genes F5, VKORC1 do not appear in final recommendations file, although they are in DPWG database:

      {
        "factors": {
          "F5": "Factor V Leiden heterozygous",
          "population": "adults"
        },
        "recommendation": "- If the patient has a FAMILY HISTORY WITH A LOT OF THROMBOSIS, or has had a PREVIOUS THROMBOSIS:1. Advise the prescriber to avoid the use of contraceptives that contain oestrogens and prescribe an on-hormone contraceptive-such as a copper IUD - as an alternative. One could also opt for a progestogen-only contraceptive method, such as the depot injection, an IUD with levonorgestrel or an implant with etonogestrel.- OTHER CASES:1. Advise the patient to avoid additional risk factors for thrombosis (obesity, smoking, etc.).",
        "guideline": "https://www.pharmgkb.org/guidelineAnnotation/PA166104955"
      },

      {
        "factors": {
          "VKORC1": "rs9923231 reference (C)",
          "population": "adults"
        },
        "recommendation": "NO action is needed for this gene-drug interaction",
        "guideline": "https://www.pharmgkb.org/guidelineAnnotation/PA166182841"
      }

However, these genes are not in the CPIC database.

My genotype.json file looks like this:

{
  "ABCG2": "rs2231142 reference (G)/rs2231142 variant (T)",
  "CFTR": "2789+5G->A/R1070W",
  "CYP2B6": "*1/*4",
  "CYP2D6": "*7/*7",
  "CYP2C9": "*1/*11",
  "CYP2C19": "*1/*2",
  "CYP3A5": "*3/*3",
  "F5": "Factor V Leiden heterozygous",
  "NUDT15": "1/*2",
  "VKORC1": "rs9923231 reference (C)",
  "CACNA1S": "c.3257G>A/c.3257G>A",
  "SLCO1B1": "*1A/*1B"
}

[monigenomi]

Hi @MateuszMarynowski, Thank you very much for your feedback. I implemented the missing functionality, which was the lack of support for phenotypes existing only in DPWG.

[MateuszMarynowski]

Thank you very much!