Detail Information of AutCNV0005800
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 | |||||
- | ASD | - | - | - | - | 1 | - | - | Woodbury-Smith M, 2017 | ||
Complication: | Y | ||||||||||
Population: | - | ||||||||||
Platform: | - | ||||||||||
Method: | Microarray | ||||||||||
Marker: | - | ||||||||||
Band: | |||||||||||
Evidences: | Denovo CNVs; | ||||||||||
Region: | ChrX : - (Deduced by Band) | ||||||||||
Gain/Loss: | Gain |
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 |
---|---|---|---|
AutG2332 | FMR1 | XL | Level 4: The disorder is a generally acknowledged ASD related disorder. |
AutG4204 | MECP2 | XL | Level 4: The disorder is a generally acknowledged ASD related disorder. |
AutG6853 | SYN1 | XL | Level 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed. |
3. Related Non-syndromic Genes Top