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AT-rich interaction domain 1B


Approved Name: AT-rich interaction domain 1B
ARID1B aliases: KIAA1235, ELD\/OSA1, p250R, BAF250b, DAN15, 6A3-5
Chromosomal Location: 6q25.3
HGNC: HGNC:18040
Tier 1 Gene with three or more de novo pathogenic loss-of-function variants
14.17 Haploinsufficiency Score (Decipher)
1 Probability of Being LoF Intolerant (gnomAD)
Last Updated: Dec 31, 2019
Gene Reviews


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


Santen GW et. al., Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome., Nat Genet, 2012
Thevenon J et. al., Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test., Clin Genet, 2016
Hoyer J et. al., Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability., Am J Hum Genet, 2012
Yang Y et. al., Clinical whole-exome sequencing for the diagnosis of mendelian disorders., N Engl J Med, 2013
Dillon OJ et. al., Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders., Eur J Hum Genet, 2018
Ji J et. al., A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants., Cold Spring Harb Mol Case Stud, 2019
Trujillano D et. al., Clinical exome sequencing: results from 2819 samples reflecting 1000 families., Eur J Hum Genet, 2017
Deciphering Developmental Disorders Study. et. al., Large-scale discovery of novel genetic causes of developmental disorders., Nature, 2015
Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019
Ben-Salem S et. al., Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings., Am J Med Genet A, 2016
O'Roak BJ et. al., Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations., Nature, 2012
Coe BP et. al., Refining analyses of copy number variation identifies specific genes associated with developmental delay., Nat Genet, 2014
Wieczorek D et. al., A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling., Hum Mol Genet, 2013
Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018
Aspromonte MC et. al., Characterization of intellectual disability and autism comorbidity through gene panel sequencing., Hum Mutat, 2019
Chérot E et. al., Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients., Clin Genet, 2018
Yan H et. al., Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene., BMC Med Genet, 2019
Halgren C et. al., Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B., Clin Genet, 2012
Wang T et. al., De novo genic mutations among a Chinese autism spectrum disorder cohort., Nat Commun, 2016
Beighley JS et. al., Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes., Biol Psychiatry, 2020
Grozeva D et. al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability., Hum Mutat, 2015
Vals MA et. al., Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene., Eur J Hum Genet, 2014
Sweeney NM et. al., The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections., Cold Spring Harb Mol Case Stud, 2018
Pranckeniene L et. al., De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome., Mol Genet Genomic Med, 2019
Natsume T et. al., Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome., Pediatr Int, 2018
Melo Gomes S et. al., Inflammatory Arthritis as a Possible Feature of Coffin-Siris Syndrome., Pediatrics, 2019
Iglesias A et. al., The usefulness of whole-exome sequencing in routine clinical practice., Genet Med, 2014