Detail Information of AutLD0000130
1. Sample AND Method Top
| Ancestry | ADI-R | ADOS | Diagnosis | Family | Individual | Reference | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Not Mentioned |  | | autism | - | - | - | - | 12 | 44 | 56 | Lauritsen, 2006 | |
| Country: | Faroe Islands | |||||||||||
| Marker Number: | 502 | |||||||||||
| Platform: | - | |||||||||||
| Method: | microsatellite-based genomic screen | |||||||||||
| Software Algorithm: | CLUMP | |||||||||||
| Band: | 6q23.3 | |||||||||||
| Marker: | D6S1009 | |||||||||||
| Region: | Chr6: 135200000 - 139100000 | |||||||||||
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 |
|---|---|---|---|
| AutG54806 | AHI1 | AR | 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 | |||
| AutG54806 | AHI1 | 1 | 0 | 0 | 3 | 1 | 1 | 25 |
| AutG27115 | PDE7B | 0 | 0 | 0 | 2 | 1 | 1 | 4 |
| AutG5191 | PEX7 | 1 | 0 | 0 | 0 | 1 | 1 | 4 |
| AutG23593 | HEBP2 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |