Detail Information of AutCNV0005019
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 | |||||
| - |  | | autism | 7 | - | - | - | 11 | - | 11 | Szafranski P, 2015 |
| Complication: | Y | ||||||||||
| Population: | - | ||||||||||
| Platform: | V8.1.1 OLIGO; 180?K | ||||||||||
| Method: | aCGH;FISH | ||||||||||
| Marker: | - | ||||||||||
| Band: | Xp22.13 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | ChrX: 18460071-19094977 | ||||||||||
| Gain/Loss: | gain | ||||||||||
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 |
|---|---|---|---|
| AutG6792 | CDKL5 | XL | 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 | |||
| AutG6792 | CDKL5 | 0 | 0 | 1 | 0 | 1 | 0 | 36 |