|
|
Evidence Type |
Case Information Type |
Guidelines |
|
Points |
PMIDs/Notes |
Default |
Range |
Max |
Count |
Total |
Counted |
|
Autosomal Dominant or X-linked Disorder |
Variant is de novo |
2 |
0-3 |
12 |
|
|
|
|
Proband with predicted or proven null variant |
1.5 |
0-2 |
10 |
8 |
10.5
|
10
|
Richards FM et al. 1999 Apr (PMID:10072428); Frebourg T et al. 2006 Feb (PMID:15831593); Guilford P et al. 1998 Mar 26 (PMID:9537325); Oliveira C et al. 2009 May 1 (PMID:19168852);
|
Proband with other variant type with some evidence of gene impact |
0.5 |
0-1.5 |
7 |
3 |
2
|
2
|
Suriano G et al. 2003 Mar 1 (PMID:12588804); Guilford P et al. 1998 Mar 26 (PMID:9537325);
|
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 |
|
Summed LOD |
Family Count |
0 |
0 |
|
Candidate gene sequencing |
1.51 |
1 |
Frebourg T et al. 2006 Feb (PMID:15831593); |
Exome/genome or all genes sequenced in linkage region |
|
|
|
Total Summed LOD Score |
1.51 |
|
|
|
Case-Control Study Type |
Case-Control Quality Criteria |
Guidelines |
|
Points |
PMIDs/Notes |
Points/Study |
Max |
Count |
Points |
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) |
12
|
|
|
Evidence Category |
Evidence Type |
Guidelines |
|
Points |
PMIDs/Notes |
Default |
Range |
Max |
Count |
Total |
Counted |
Function |
Biochemical Function |
0.5 |
0 - 2 |
2 |
1 |
0.5
|
1
|
Kemler R et al. 1993 Sep (PMID:8236461);
|
Protein Interaction |
0.5 |
0 - 2 |
|
|
|
Expression |
0.5 |
0 - 2 |
1 |
0.5
|
Shimoyama Y et al. 1991 Apr 15 (PMID:2009537);
|
Functional Alteration |
Patient cells |
1 |
0 - 2 |
2 |
|
|
1
|
|
Non-patient cells |
0.5 |
0 - 1 |
1 |
1
|
Suriano G et al. 2003 Nov 15 (PMID:14500541);
|
Models |
Non-human model organism |
2 |
0 - 4 |
4 |
1 |
2
|
4
|
Perl AK et al. 1998 Mar 12 (PMID:9515965);
|
Cell culture model |
1 |
0 - 2 |
|
|
|
Rescue |
Rescue in human |
2 |
0 - 4 |
|
|
|
Rescue in non-human model organism |
2 |
0 - 4 |
1 |
2
|
Perl AK et al. 1998 Mar 12 (PMID:9515965);
|
Rescue in cell culture model |
1 |
0 - 2 |
1 |
1
|
Vleminckx K et al. 1991 Jul 12 (PMID:2070412);
|
Rescue in patient cells |
1 |
0 - 2 |
|
|
|
Total Experimental Evidence Points (Maximum 6) |
6
|
|