AUTS2 Chromosome 7
Activator of transcription and developmental regulator AUTS2
Upload your DNA to see your personal genotypes for variants in AUTS2.
What This Gene Does
This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
Associated Conditions (17)
See cases
AUTS2-related disorder
Inborn genetic diseases
Autism spectrum disorder due to AUTS2 deficiency
Intellectual disability
Neurodevelopmental abnormality
Autism spectrum disorder
Global developmental delay
Autism
Syndromic intellectual disability
Pierre Robin-like syndrome
Multiple congenital anomalies
Corpus callosum
agenesis of
Congenital cerebellar hypoplasia
Developmental disorder
autosomal dominant 57
Key Variants
RS1051952947
Conflicting classifications of pathogenicity
See cases, AUTS2-related disorder, Inborn genetic diseases
Health Risk
RS1057521756
Conflicting classifications of pathogenicity
Health Risk
RS1206101901
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1223142286
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1277387034
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1289630665
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1311127815
Conflicting classifications of pathogenicity
Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
Health Risk
RS1340261250
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autism spectrum disorder due to AUTS2 deficiency, Inborn genetic diseases
Health Risk
RS1354737257
Conflicting classifications of pathogenicity
Health Risk
RS1368494641
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143679158
Conflicting classifications of pathogenicity
Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
Health Risk
RS146706542
Conflicting classifications of pathogenicity
AUTS2-related disorder, Inborn genetic diseases, AUTS2-related disorder
Health Risk
All Variants (141)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755851980 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS756314192 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757432625 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758531526 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761324549 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762069191 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder due to AUTS2 deficiency, Inborn genetic diseases, Autism spectrum disorder due to AUTS2 deficiency |
| RS763284520 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767529359 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder due to AUTS2 deficiency, AUTS2-related disorder, Inborn genetic diseases |
| RS772666638 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS773674679 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder due to AUTS2 deficiency, Inborn genetic diseases, Autism spectrum disorder due to AUTS2 deficiency |
| RS774709893 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776652690 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS79439293 | Health Risk | Conflicting classifications of pathogenicity | AUTS2-related disorder, AUTS2-related disorder |
| RS959384891 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS973467545 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1041469078 | Health Risk | Likely pathogenic | — |
| RS1057518986 | Health Risk | Likely pathogenic | Pierre Robin-like syndrome, Pierre Robin-like syndrome |
| RS1064795490 | Health Risk | Likely pathogenic | — |
| RS1348011365 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1383001370 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1563183444 | Health Risk | Likely pathogenic | — |
| RS1563183469 | Health Risk | Likely pathogenic | Multiple congenital anomalies, Corpus callosum, agenesis of |
| RS1563183492 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1585645384 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1585646282 | Health Risk | Likely pathogenic | — |
| RS1585653240 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1585701007 | Health Risk | Likely pathogenic | — |
| RS1789811451 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2129540473 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS2129561598 | Health Risk | Likely pathogenic | — |
| RS2484638564 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2484667150 | Health Risk | Likely pathogenic | AUTS2-related disorder, AUTS2-related disorder |
| RS2484683408 | Health Risk | Likely pathogenic | AUTS2-related disorder, AUTS2-related disorder |
| RS2484684324 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS2484735280 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS2484905470 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS2484942852 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS2484976439 | Health Risk | Likely pathogenic | — |
| RS773162178 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS776400671 | Health Risk | Likely pathogenic | — |
| RS869312878 | Health Risk | Likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1057517708 | Health Risk | Pathogenic | Intellectual disability, Autism spectrum disorder due to AUTS2 deficiency, Intellectual disability |
| RS1057518198 | Health Risk | Pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1064794696 | Health Risk | Pathogenic | — |
| RS1490328774 | Health Risk | Pathogenic | — |
| RS1554401434 | Health Risk | Pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1554464807 | Health Risk | Pathogenic | Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency |
| RS1554480487 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554481713 | Health Risk | Pathogenic | — |
| RS1554481763 | Health Risk | Pathogenic | — |