Known Issues in the Interpretation Portal¶
If you need support, have identified a new bug, or experience any issues with the Interpretation Portal, please use the links below to contact the Genomics England Service Desk:
Request support Report an issue
Current Issues¶
Current issues affecting the Interpretation Portal:
| Issue ID | Affected referrals | Description | Impact | Affected versions | Workaround |
|---|---|---|---|---|---|
| INTPORTAL-2100 | Cancer | Incorrect VCF file (<Germline-sample>_<Tumour-sample>.somatic.vcf.gz) available to be downloaded from the Interpretation Portal. |
The VCF file that is available to be downloaded is an intermediate ITD VCF instead of the VCF file with somatic small variants after normalisation. | Regulus 1.1 Increment 2.33 and Regulus 1.2 Increment 2.33 | Please contact the Genomics England Service Desk if you require the correct VCF to continue with your analysis until a fix is released. |
| CIPAPI-2835 | Cancer and Rare Disease | Performance issues when dispatching a high volume of referrals to the decision support systems supported. | A small number of referrals might take longer than usual to be available in the decision support systems. | All | Please contact the Genomics England Service Desk if you suspect a dispatch issue occured. |
| INTPORTAL-1977 | Rare Disease | Virtual gene panel information might appear duplicated in the Interpretation Browser for some STR variants. | If a referral has tiered STR variants present, the virtual gene panel information might appear duplicated in the Interpretation Browser. This issue only affects the display of the data. STR variants can be added to the SoF from the Interpretation Portal as usual. | All | At present there is no workaround, other than documenting this in the user guide for user awareness until a fix is released. |
Resolved Issues¶
Issues fixed in this release:
| Issue ID | Affected referrals | Description | Impact | Fix version |
|---|---|---|---|---|
| INTPORTAL-2049 | Rare Disease | When linking out to OMIM, the top result was filtered out. | The first entry was filtered out on the OMIM website after clicking on the OMIM linkout provided in the Interpretation Browser due to how the URL was constructed. The workaround available for users while waiting for a fix was to perform the search in OMIM manually instead. | Regulus 1.3 Increment 2.33 |
| INTPORTAL-2033 | Rare Disease | An issue was causing some referral pages to load slowly, usually low-quality samples. | Slow performance when loading the data in the Interpretation Browser for some referrals. Users had to wait longer than usual to see the data. | Regulus 1.3 Increment 2.33 |
| INTPORTAL-2028 | Rare Disease | Users were unable to select the correct report event for STRs in compound heterozygous states. | Users couldn't select TIER1 or TIER2 report events of STRs to be included in the SoF. The workaround available for users while waiting for a fix was to close the pop-up window and try again. | Regulus 1.3 Increment 2.33 |
| INTPORTAL-2027 | Rare Disease | Incorrect counts of tiered variants were being shown, after selecting and deselecting tiered STRs. | Incorrect counts of tiered variants were being shown in the Interpretation Summary after selecting and deselecting tiered STRs from the Interpretation Browser. The workaround available for users while waiting for a fix was to refresh the page. | Regulus 1.3 Increment 2.33 |
| INTPORTAL-2023 | Rare Disease | Ordering SNVs and CNVs by tier was not working as expected. | The sorting functionality available in the Interpretation Browser didn't allow users to sort SNVs and CNVs by tier. The workaround available for users while waiting for a fix was to filter variants by individual tiers to avoid missing variants categorised in higher tiers and not to rely on the sorting by tier functionality. | Regulus 1.3 Increment 2.33 |
Issues fixed in previous releases
| Issue ID | Affected referrals | Description | Fix version |
|---|---|---|---|
| INTPORTAL-2007 | Rare Disease | Fixed an issue where STR tier links were not functioning correctly on the case summary page. Navigation should now be smooth and reliable. | Quasar 2.32 |
| INTPORTAL-1989 | Rare Disease | The DSS linkout is now disabled when the workflow status is set to Error, preventing inappropriate link activity |
Quasar 2.32 |
| INTPORTAL-1852 | Rare Disease | Number of Unique STRs column on the referral page displayed incorrect values. This column now correctly reflects the variant summary for STRs. | Petra 2.31 |
| INTPORTAL-1931 | Rare Disease | The variant summary on the referral page didn't include Tier B CNVs. | Petra 2.31 |
| INTPORTAL-1988 | Rare Disease | The gene panel name for SNV variants was incorrectly displayed as a link. It now appears as plain text as intended. | Petra 2.31 |
| INTPORTAL-1948 | Not applicable | Users are no longer prompted to sign in again after refreshing a page, as long as they are already authenticated. | Petra 2.31 |
| CIPAPI-2573 | Not applicable | Fixed a session timeout issue where users were being logged out after 30 minutes despite active usage. | Petra 2.31 |
| INTPORTAL-1968 | Rare Disease | Resolved a bug that caused an unexpected "Error Not Found" message to appear when loading Rare Disease cases, even though all functionalities were working correctly | Orion 2.29 |
| CIPAPI-2528 | Not applicable | We have fixed issues causing premature logouts whilst the smartcard session is still active. | Orion 2.29 |
| IP-5230 | Cancer | A fix has been implemented to ensure that cases are flagged correctly in the Daily Summary Emails | Nembus 2.27 |
| CIPAPI-1225 | Cancer and Rare Disease | Editing the RoQ will no longer cause a referral to be moved to the "Reported Cases" tab if there's a newer RoQ in draft state | Mira 2.25 |
| INTPORTAL-1805 | Rare Disease | Resolves a bug related to the submission of Reporting Outcomes Questionnaires that were auto-populated for VUS variants | Lyra 2.24 |
| INTPORTAL-1707 | Rare Disease | The sort order for CVA Classifications is now working as expected; Pathogenic > Likely Pathogenic > Conflicting Classifications > VUS > Likely Benign > Benign > Unclassified | Jabbah 2.22 |
| IP-5207 | Rare Disease | The CVA links to variants and ClinVar annotations are now loaded to variants when using the Add variants from VCF feature | Jabbah 2.22 |
| INTPORTAL-1704 | Rare Disease | Now, after using the Add variants from VCF feature, the user sees the Filter Tiered Variants filter engaging with the selected gene and only the variants for this selected gene are visible in the SNV variant table | Jabbah 2.22 |
| IP-5166 | Rare Disease | Fixed Exomiser variant sorting bug in the Interpretation Browser | Izar 2.19 |
| INTPORTAL-1643 | Cancer | Fixed Test Tumour Diagnosis Date displaying incorrectly | Izar 2.19 |