CASZ1
Homo sapiens
Gene Name: castor zinc finger 1
Aliases: CAS11, CST, SRG, ZNF693, dJ734G22.1
Chromosome No: 1
Chromosome Band: 1p36.22
Genetic Category: Rare single gene variant-
Aliases: CAS11, CST, SRG, ZNF693, dJ734G22.1
Chromosome No: 1
Chromosome Band: 1p36.22
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 54
Associated CNVs: 16
Evidence score: 4
ASD Reports: 7
Recent Reports: 1
Annotated variants: 54
Associated CNVs: 16
Evidence score: 4
| 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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
ID
Recent Recommendation
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1060R001
frameshift_variant
c.4403dup
p.Cys1469LeufsTer358
De novo
Multiplex
GEN1060R002
frameshift_variant
c.4613del
p.Gly1538AlafsTer5
De novo
Simplex
GEN1060R008
missense_variant
c.3428G>C
XP_005263536.1:p.Trp1143Ser
Familial
Maternal
GEN1060R009
missense_variant
c.3424G>A
XP_005263536.1:p.Ala1142Thr
Familial
Maternal
GEN1060R010
missense_variant
c.820G>A
XP_005263536.1:p.Glu274Lys
Familial
Maternal
GEN1060R011
missense_variant
c.1693G>A
XP_005263536.1:p.Gly565Ser
Familial
Maternal
GEN1060R016
missense_variant
c.3983G>A
XP_005263536.1:p.Arg1328Gln
Unknown
Simplex
Common
No Common Variants Available
