|
|
Evidence Type |
Case Information Type |
Guidelines |
Points |
PMIDs/Notes |
Default |
Range |
Max |
Total |
Counted |
|
Autosomal Dominant or X-linked Disorder |
Variant is de novo |
2 |
0-3 |
12 |
4
|
4
|
Koudova M et al. 2009 Sep-Oct (PMID:19416762); Sarkozy A et al. 2009 Apr (PMID:19206169);
|
Proband with predicted or proven null variant |
1.5 |
0-2 |
10 |
|
|
|
Proband with other variant type with some evidence of gene impact |
0.5 |
0-1.5 |
7 |
1
|
1
|
Ezquieta B et al. 2012 May (PMID:22465605); Carcavilla A et al. 2013 May (PMID:24775816);
|
Autosomal Recessive Disease |
Two variants in trans and at least one de novo or a predicted/proven null variant |
2 |
0-3 |
12 |
|
|
|
Two variants (not predicted/proven null) with some evidence of gene impact in trans |
1 |
0-1.5 |
|
|
Segregation Evidence |
Evidence of segregation in one or more families |
|
Sequencing Method |
0-3 |
3 |
|
|
|
Total LOD Score |
Canditate Gene Sequencing |
Exome/Genome or all genes sequenced in linkage region |
|
2-2.99 |
0.5 |
1 |
|
3-4.99 |
1 |
2 |
|
≥5 |
1.5 |
3 |
|
|
Case-Control Study Type |
Case-Control Quality Criteria |
Guidelines |
Points |
PMIDs/Notes |
Points/Study |
Max |
Total |
Counted |
Single Variant Analysis |
1. Variant Detection Methodology
2. Power
3. Bias and confounding
4. Statistical Significance |
0-6 |
12 |
|
|
|
Aggregate Variant Analysis |
0-6 |
|
|
Total Genetic Evidence Points (Maximum 12) |
5
|
|
|
Evidence Category |
Evidence Type |
Guidelines |
Points |
PMIDs/Notes |
Default |
Range |
Max |
Total |
Counted |
Function |
Biochemical Function |
0.5 |
0 - 2 |
2 |
|
0.5
|
=PrintWrapperPmid($inputThisData["ExperimentalEvidence"]["Function"]["BiochemicalFunction"], "scoreJson[ExperimentalEvidence][Function][BiochemicalFunction]") ?>
|
Protein Interaction |
0.5 |
0 - 2 |
0.5
|
Rauen KA et al. 2013 July 15 (PMID:23875798);
|
Expression |
0.5 |
0 - 2 |
|
|
Functional Alteration |
Patient cells |
1 |
0 - 2 |
2 |
|
0
|
|
Non-patient cells |
0.5 |
0 - 1 |
0
|
Sarkozy A et al. 2009 Apr (PMID:19206169);
|
Models |
Non-human model organism |
2 |
0 - 4 |
4 |
|
|
|
Cell culture model |
1 |
0 - 2 |
|
|
Rescue |
Rescue in human |
2 |
0 - 4 |
|
|
Rescue in non-human model organism |
2 |
0 - 4 |
|
|
Rescue in cell culture model |
1 |
0 - 2 |
|
|
Rescue in patient cells |
1 |
0 - 2 |
|
|
Total Experimental Evidence Points (Maximum 6) |
0.5
|
|