Detail Information of AutCNV0000299
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 | |||||
Not Mentioned | autism | - | - | - | - | 3 | - | 3 | Thomas, 1999 | ||
Complication: | MLS syndrome | ||||||||||
Population: | - | ||||||||||
Platform: | - | ||||||||||
Method: | FISH | ||||||||||
Marker: | DXYS201-KAL1 | ||||||||||
Band: | Xp22 | ||||||||||
Evidences: | Denovo CNVs; | ||||||||||
Region: | ChrX: 620645-8740227 | ||||||||||
Gain/Loss: | loss |
2. Related Syndromic Genes Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID | Gene Symbol | Inheritance | Evidence Level |
---|---|---|---|
AutG57502 | NLGN4X | 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