Detail Information of AutLD0000138
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: | 16p13.3 | |||||||||||
| Marker: | D16S748 | |||||||||||
| Region: | Chr16: 0 - 6300000 | |||||||||||
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 |
|---|---|---|---|
| AutG7249 | TSC2 | AD | Level 4: The disorder is a generally acknowledged ASD related disorder. |
| AutG1387 | CREBBP | AD | 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 | |||
| AutG7249 | TSC2 | 1 | 0 | 1 | 0 | 1 | 1 | 46 |
| AutG54715 | RBFOX1 | 0 | 0 | 2 | 2 | 2 | 2 | 28 |
| AutG8912 | CACNA1H | 0 | 0 | 1 | 0 | 1 | 1 | 22 |
| AutG1387 | CREBBP | 2 | 0 | 0 | 0 | 1 | 1 | 16 |
| AutG197335 | WDR90 | 0 | 0 | 1 | 0 | 1 | 1 | 12 |
| AutG5310 | PKD1 | 0 | 0 | 0 | 2 | 1 | 1 | 6 |
| AutG283871 | PGP | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG51172 | NAGPA | 0 | 0 | 0 | 1 | 1 | 1 | 5 |
| AutG8131 | NPRL3 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG9727 | RAB11FIP3 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG79006 | METRN | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG6187 | RPS2 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG6923 | TCEB2 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG79641 | ROGDI | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG4833 | NME4 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG57799 | RAB40C | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG9028 | RHBDL1 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG9235 | IL32 | 0 | 0 | 0 | 1 | 1 | 1 | 3 |
| AutG124402 | FAM100A | 0 | 0 | 0 | 1 | 1 | 1 | 3 |