Detail Information of AutCNV0005041
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 | 1 | - | 1 | - | 5 | - | 5 | Charzewska A, 2015 |
| Complication: | Y | ||||||||||
| Population: | Polish | ||||||||||
| Platform: | Roche Nimblegen X-chromosome 720?K microarray | ||||||||||
| Method: | aCGH;FISH | ||||||||||
| Marker: | - | ||||||||||
| Band: | Xq13.3 | ||||||||||
| Evidences: | CNVs Only Present In Patients; | ||||||||||
| Region: | ChrX: 73899064-74262928 | ||||||||||
| 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 |
|---|---|---|---|
| AutG340533 | KIAA2022 | XL | Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed. |
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 | |||
| AutG340533 | KIAA2022 | 0 | 0 | 2 | 0 | 1 | 0 | 22 |