Detail Information of AutLD0000028
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Caucasion |  | | PDD | 99 | - | 99 | - | - | - | - | Bailey, 1998 | |
| Country: | - | |||||||||||
| Marker Number: | 354 | |||||||||||
| Platform: | - | |||||||||||
| Method: | microsatellite-based genomic screen | |||||||||||
| Software Algorithm: | SPLINK | |||||||||||
| Band: | 22q11.21 | |||||||||||
| Marker: | D22S264 | |||||||||||
| Region: | Chr22: 16300000 - 20500000 | |||||||||||
2. Related Syndromic Genes TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Gene ID | Gene Symbol | Inheritance | Evidence Level |
|---|---|---|---|
| AutG6899 | TBX1 | AD | Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
3. Related Non-syndromic Genes Top| Gene ID | Gene Symbol | Evidence Score | Total Score | |||||
|---|---|---|---|---|---|---|---|---|
| Low-Scale Association | GWAS | Low-Scale Single Gene | Expression | CNV | Linkage | |||
| AutG54584 | GNB1L | 0 | 1 | 1 | 0 | 1 | 1 | 20 |
| AutG5594 | MAPK1 | 0 | 0 | 1 | 0 | 1 | 1 | 14 |
| AutG1312 | COMT | 2 | 0 | 0 | 0 | 1 | 1 | 10 |
| AutG7122 | CLDN5 | 0 | 0 | 0 | 2 | 1 | 1 | 8 |
| AutG3053 | SERPIND1 | 0 | 0 | 0 | 1 | 1 | 1 | 7 |
| AutG9993 | DGCR2 | 0 | 0 | 0 | 1 | 1 | 1 | 7 |
| AutG23753 | SDF2L1 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG637 | BID | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG7332 | UBE2L3 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG25787 | DGCR9 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |