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CASK

calcium/calmodulin dependent serine protein kinase

CASK

Approved Name: calcium/calmodulin dependent serine protein kinase
CASK aliases: LIN2, CAGH39, FGS4
Chromosomal Location: Xp11.4
HGNC: HGNC:1497
Tier 1 Gene with three or more de novo pathogenic loss-of-function variants
3.08 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

LaConte LEW et. al., Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction., Hum Genet, 2018
Hayashi S et. al., Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)., PLoS One, 2017
Snoeijen-Schouwenaars FM et. al., Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability., Epilepsia, 2019
Moog U et. al., Phenotypic spectrum associated with CASK loss-of-function mutations., J Med Genet, 2011
Michaud JL et. al., The genetic landscape of infantile spasms., Hum Mol Genet, 2014
Rump P et. al., Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly., BMC Med Genomics, 2016
Helbig KL et. al., Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy., Genet Med, 2016
Yang Y et. al., Clinical whole-exome sequencing for the diagnosis of mendelian disorders., N Engl J Med, 2013
Lee H et. al., Clinical exome sequencing for genetic identification of rare Mendelian disorders., JAMA, 2014
Kodera H et. al., Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy., Epilepsia, 2013
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
Hu H et. al., Genetics of intellectual disability in consanguineous families., Mol Psychiatry, 2019
Aspromonte MC et. al., Characterization of intellectual disability and autism comorbidity through gene panel sequencing., Hum Mutat, 2019
Long S et. al., The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children., Front Neurol, 2019
Burglen L et. al., Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient., Orphanet J Rare Dis, 2012
Hesse AN et. al., Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel., Epilepsy Res, 2018
Ko A et. al., Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy., Epilepsy Res, 2018
Cristofoli F et. al., Novel CASK mutations in cases with syndromic microcephaly., Hum Mutat, 2018