Human Gene Module / Chromosome 1 / CASZ1

CASZ1castor zinc finger 1

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
1 / 4
Rare Variants / Common Variants
3 / 0
Aliases
CASZ1, CAS11,  CST,  SRG,  ZNF693,  dJ734G22.1
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
1p36.22
Associated Disorders
-
Relevance to Autism

De novo likely gene-disruptive (LGD) variants in the CASZ1 gene have been identified in two ASD-affected siblings from a multiplex family (Yuen et al., 2017), one proband with intellectual disability (Lelieveld et al., 2016), and one proband with an unspecified developmental disorder (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified CASZ1 as a gene with an excess of LGD variants (false discovery rata < 5%, count >1) (Coe et al., 2018).

Molecular Function

The protein encoded by this gene is a zinc finger transcription factor and may function as a tumor suppressor.

Reports related to CASZ1 (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Lelieveld SH , et al. (2016) No -
2 Support Prevalence and architecture of de novo mutations in developmental disorders. Deciphering Developmental Disorders Study (2017) No -
3 Primary Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017) Yes -
4 Recent Recommendation Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. Coe BP , et al. (2018) No -
Rare Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.2689C>T p.Gln897Ter stop_gained De novo - - 28135719 Deciphering Developmental Disorders Study (2017)
c.4612del p.Gly1538AlafsTer5 frameshift_variant De novo - Simplex 27479843 Lelieveld SH , et al. (2016)
c.4403_4404insT p.Cys1469LeufsTer358 frameshift_variant De novo - Multiplex 28263302 C Yuen RK , et al. (2017)
Common Variants  

No common variants reported.

CNVs associated with CASZ1(1 CNVs)
1p36.22 14 Deletion-Duplication 26  /  111
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