Return to gene listing

CTNNB1

catenin beta 1

CTNNB1

Approved Name: catenin beta 1
CTNNB1 aliases: beta-catenin, armadillo
Chromosomal Location: 3p22.1
HGNC: HGNC:2514
Tier 1 Gene with three or more de novo pathogenic loss-of-function variants
0.18 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

Tucci V et. al., Dominant ß-catenin mutations cause intellectual disability with recognizable syndromic features., J Clin Invest, 2014
Thevenon J et. al., Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test., Clin Genet, 2016
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
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
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
Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019
Kuechler A et. al., De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum., Hum Genet, 2015
Wang H et. al., Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects., Neurol Sci, 2019
Beighley JS et. al., Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes., Biol Psychiatry, 2020
de Ligt J et. al., Diagnostic exome sequencing in persons with severe intellectual disability., N Engl J Med, 2012
Grozeva D et. al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability., Hum Mutat, 2015
Winczewska-Wiktor A et. al., A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report., BMC Neurol, 2016
Wang Q et. al., Effect of Damaging Rare Mutations in Synapse-Related Gene Sets on Response to Short-term Antipsychotic Medication in Chinese Patients With Schizophrenia: A Randomized Clinical Trial., JAMA Psychiatry, 2018
Percy AK et. al., When Rett syndrome is due to genes other than <i>MECP2</i>., Transl Sci Rare Dis, 2018