Detail Information of AutLD0000093
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Caucasion |  | | ASD | 34 | - | 34 | - | - | - | - | Molloy, 2005 | |
| Country: | USA | |||||||||||
| Marker Number: | 408 | |||||||||||
| Platform: | - | |||||||||||
| Method: | microsatellite-based genomic screen | |||||||||||
| Software Algorithm: | Genehunter-plus | |||||||||||
| Band: | 7q36.1 | |||||||||||
| Marker: | D7S483 | |||||||||||
| Region: | Chr7: 147500000 - 152200000 | |||||||||||
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 |
|---|---|---|---|
| AutG26047 | CNTNAP2 | AR (AD too?) | Level 4: The disorder is 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 | |||
| AutG26047 | CNTNAP2 | 3 | 1 | 3 | 0 | 1 | 1 | 44 |
| AutG2146 | EZH2 | 1 | 0 | 0 | 0 | 1 | 1 | 4 |
| AutG55365 | TMEM176A | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG474344 | GIMAP6 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |