Detail Information of AutCNV0000270
1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | |||||
| Caucasion |  | | autism | - | - | - | - | 1 | - | 1 | Niklasson, 2002 |
| Complication: | CATCH 22 syndrome | ||||||||||
| Population: | Sweden | ||||||||||
| Platform: | - | ||||||||||
| Method: | FISH | ||||||||||
| Marker: | - | ||||||||||
| Band: | 22q11 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | Chr22: - (Deduced by Band) | ||||||||||
| Gain/Loss: | loss | ||||||||||
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 | 2 | 1 | 20 |
| AutG23523 | CABIN1 | 0 | 0 | 0 | 1 | 2 | 0 | 15 |
| AutG5594 | MAPK1 | 0 | 0 | 1 | 0 | 1 | 1 | 14 |
| AutG23765 | IL17RA | 0 | 0 | 1 | 0 | 1 | 0 | 12 |
| AutG1312 | COMT | 2 | 0 | 0 | 0 | 2 | 1 | 10 |
| AutG7122 | CLDN5 | 0 | 0 | 0 | 2 | 2 | 1 | 8 |
| AutG9993 | DGCR2 | 0 | 0 | 0 | 1 | 2 | 1 | 7 |
| AutG3053 | SERPIND1 | 0 | 0 | 0 | 1 | 2 | 1 | 7 |
| AutG2952 | GSTT1 | 0 | 0 | 0 | 1 | 2 | 0 | 5 |
| AutG637 | BID | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG23753 | SDF2L1 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG25787 | DGCR9 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG7332 | UBE2L3 | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG135 | ADORA2A | 1 | 0 | 0 | 0 | 1 | 0 | 4 |
| AutG91355 | LRP5L | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG9647 | PPM1F | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG91316 | LOC91316 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG91353 | IGLL3P | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG3543 | IGLL1 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |
| AutG400916 | CHCHD10 | 0 | 0 | 0 | 1 | 1 | 0 | 3 |