The list of possible values is restricted to the LGMD forms specified in the consensus definition published in 2018.
| Item type: | single selection |
Specifies whether the diagnosis has been genetically confirmed. If the genetic test results are pending, the value must be No.
If the value is Yes, the genetic report date(s) and variants should be captured in one or more instances of the record Variant. As long as the value is No, registries should ask the data provider at each update to verify if this has changed. The datestamp of this item is the date when its value was last updated or marked as up-to-date (and not the report date, which is captured in the item Genetic report date).
The long-term goal for this dataset is to use the following definition of genetic confirmation:
However, many registries currently may not have the resources to verify genetic reports according to these criteria. Therefore, the value Yes for this item also applies to individuals who are reported to have a genetically confirmed diagnosis of LGMD, but where the registry is not able to verify the variant(s) and their pathogenicity.
| Item type: | yes/no |
| Usage in other datasets: | SMADMD |
In version 1.0, the definition of this item was changed to allow the value Yes to be specified for individuals who are reported to have a genetically confirmed diagnosis of LGMD, but where the registry is not able to verify the variant(s) and their pathogenicity.
For each variant that is related to the genetic confirmation as described in the item Genetic confirmation, an instance of this record must be provided. Further variants may be reported additionally; however, benign and likely benign variants are outside the scope of this dataset. All information collected in this record should be extracted from the genetic report and confirmed with a geneticist if necessary.
Description of the variant according to HGVS nomenclature.
| Item type: | restricted text |
| Usage in other datasets: | SMADMD |
Pathogenicity of the variant described in this record for the diagnosis specified in LGMD type according to the ACMG guidelines.
| Item type: | single selection |
| Value ID | Description |
|---|---|
| Pathogenic | Pathogenic |
| Likely pathogenic | Likely pathogenic |
| Uncertain significance | Uncertain significance |
Specifies whether the individual has ever had a muscle MRI performed as part of the diagnostic process.
This item is not mandatory in case Genetic confirmation has the value Yes.
| Item type: | yes/no |
Although the purpose of this item is to capture through which methods the diagnosis was confirmed, it is not restricted to MRIs that confirm the diagnosis because this information will often not be available.