ZSWIM6
Homo sapiens
Gene Name: zinc finger SWIM-type containing 6
Aliases: AFND
Chromosome No: 5
Chromosome Band: 5q12.1
Genetic Category: Syndromic-Genetic association-Rare single gene variant
Aliases: AFND
Chromosome No: 5
Chromosome Band: 5q12.1
Genetic Category: Syndromic-Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 6
Evidence score: 3
ASD Reports: 6
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 6
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
A recurrent de novo nonsense variant in the ZSWIM6 gene (p.Arg913Ter) was identified in seven unrelated individuals affected with intellectual disability; five of these individuals also met the diagnostic crtieria for autism or autism spectrum disorder (Palmer et al., 2017).
Molecular Function
The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
ID
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID
Support
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting
Neurodevelopmental disorder with movement abnormal
DD, ID, epilepsy/seizures
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN990C001
intergenic_variant
rs7701440
T>C
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
