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ASXL3

ASXL transcriptional regulator 3

ASXL3

Approved Name: ASXL transcriptional regulator 3
ASXL3 aliases: No aliases found
Chromosomal Location: 18q12.1
HGNC: HGNC:29357
Tier 1 Gene with three or more de novo pathogenic loss-of-function variants
13.78 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

Kuechler A et. al., Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition., Eur J Hum Genet, 2017
Balasubramanian M et. al., Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with <i>de novo</i>, heterozygous, loss-of-function mutations in <i>ASXL3</i> and review of published literature., J Med Genet, 2017
Bainbridge MN et. al., De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome., Genome 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
Srivastava S et. al., Clinical whole exome sequencing in child neurology practice., Ann Neurol, 2014
Zhu X et. al., Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios., Genet Med, 2015
Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019
Dinwiddie DL et. al., De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies., BMC Med Genomics, 2013
Guo H et. al., Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model., Mol Autism, 2018
Wayhelova M et. al., Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay., Mol Med Rep, 2019
Verhoeven W et. al., Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in <i>ASXL3</i> shows overlap with the associated Bainbridge-Ropers syndrome., Neuropsychiatr Dis Treat, 2018
Chinen Y et. al., Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in <i>ASXL3</i>., Clin Case Rep, 2018