Known Issues¶
Please report any bugs or issues with the New IB via the Service Desk, as per the instructions on the feedback page.
| Issue | Affects version | Impact | Workaround |
|---|---|---|---|
| When the clinical indication is a long line of text, it overlaps into the penetrance field on the case summary page | 4.0.0 | Cosmetic. Minor impact as most of the text is still visible. | None – fix scheduled for 4.1 |
| Duplicated tiering results in tiering overlay | 4.0.0 | Cosmetic (minor impact) and user confusion, as you may wonder why the tiering result and metadata is repeated. N.B. This issue will only manifest when the tiering result is corresponds to a known pathogenic variant prioritised by KPVP |
None – fix scheduled for 4.1 We will provide the source of the tiering event as part of the tiering results, so you can see whether a variant was tiered via KPVP ClinVar, KPVP CVA or standard tiering rules, for transparency. |
| Not all genes are coloured green when they should be | 4.0.0 | User confusion, as you may wonder why a Tier 1 or Tier 2 gene isn't always shown as green, when it should be. N.B. This issue will manifest when the GMS panel applied to the patient is a superpanel and there is no other panel applied to the case that contains the affected gene. |
None – fix scheduled for 4.1 / 4.2 We will improve gene colouring logic to ensure that all green genes are coloured appropriately, regardless of presence in superpanel and/or GMS PanelApp panels, for comprehensiveness. |
| Not all diseases associated with an OMIM gene are displayed | 4.0.0 | User misinterpretation (and at extreme) risk of false negatives, as not all OMIM diseases associated with a gene are shown in the New IB, which may lead you to wrongly assume that a gene is not known to be disease causing when it is. N.B. This issue only affects genes that have >1 OMIM gene ID. |
Review OMIM gene-disease associations separately via the OMIM link provided, for safety. Fix scheduled for 4.1 / 4.2 |
Abbreviations
| Abbreviation | Definition |
|---|---|
| ACGS | Association for Clinical Genomic Science |
| ACMG | American College of Medical Genetics and Genomics |
| CDS | Coding DNA Sequence |
| CNV | Copy Number Variant |
| CVA | Clinical Variant Ark |
| New IB | New Interpretation Browser |
| GEL | Genomics England |
| GMS | Genomic Medicine Service |
| GLH | Genomic Laboratory Hub |
| HGVS | Human Genome Variation Society |
| HTML | Hyper Text Markup Language |
| HSCN | Health and Social Care Network (N3) |
| IGV | Integrative Genomics Viewer |
| IP | Interpretation Portal |
| NGIS | National Genomics Informatics System |
| PID | Patient Identifiable Data |
| QC | Quality Control |
| SO | Sequence Ontology |
| SNV | Single Nucleotide Variant |
| SV | Structural Variant |
| TOMS | Test Order Management Service |
| UAT | User Acceptance Testing |
| VCF | Variant Call Format File |
| WGS | Whole Genome Sequencing |