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AUTS2

activator of transcription and developmental regulator AUTS2

AUTS2

Approved Name: activator of transcription and developmental regulator AUTS2
AUTS2 aliases: KIAA0442, FBRSL2
Chromosomal Location: 7q11.22
HGNC: HGNC:14262
Tier 1 Gene with three or more de novo pathogenic loss-of-function variants
0.51 Haploinsufficiency Score (Decipher)
1 Probability of Being LoF Intolerant (gnomAD)
Last Updated: Dec 31, 2019
NCBI Gene
Gene Reviews

Cases

Patient ID * Disorder(s) Variant Type Inheritance Method Chromosome * Start Coordinate * End Coordinate * CNV Size * Genome Build * Coding DNA Change * Protein Change * Position * Reference Sequence * Alternate Sequence * Reference

References

Beunders G et. al., A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype., J Med Genet, 2016
Beunders G et. al., Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome., Eur J Hum Genet, 2015
McCarthy SE et. al., De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability., Mol Psychiatry, 2014
Girirajan S et. al., Relative burden of large CNVs on a range of neurodevelopmental phenotypes., PLoS Genet, 2011
Asadollahi R et. al., The clinical significance of small copy number variants in neurodevelopmental disorders., J Med Genet, 2014
Deciphering Developmental Disorders Study. et. al., Large-scale discovery of novel genetic causes of developmental disorders., Nature, 2015
C Yuen RK et. al., Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder., Nat Neurosci, 2017
Stojanovic JR et. al., Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability., J Child Neurol, 2020
Mefford HC et. al., Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies., PLoS Genet, 2010
Nagamani SC et. al., Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders., Eur J Hum Genet, 2013
Beunders G et. al., Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus., Am J Hum Genet, 2013
Balicza P et. al., Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients., Front Genet, 2019
Amarillo IE et. al., De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders., Am J Med Genet A, 2014