ZNF292
Homo sapiens
Gene Name: zinc finger protein 292
Aliases: Nbla00365, ZFP292, ZN-16, Zn-15, bA393I2.3
Chromosome No: 6
Chromosome Band: 6q14.3
Genetic Category: Rare single gene variant-Syndromic
Aliases: Nbla00365, ZFP292, ZN-16, Zn-15, bA393I2.3
Chromosome No: 6
Chromosome Band: 6q14.3
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 12
Recent Reports: 1
Annotated variants: 52
Associated CNVs: 9
Evidence score: 4
ASD Reports: 12
Recent Reports: 1
Annotated variants: 52
Associated CNVs: 9
Evidence score: 4
| Associated Disorders: |
|
Relevance to Autism
A de novo loss-of-function (LoF) variant in the ZNF292 gene was identified in a female ASD proband with positive family history from the Autism Sequencing Consortium (Neale et al., 2012); a second de novo LoF variant in this gene was identified in an ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort (Wang et al., 2016).
Molecular Function
The protein encoded by this gene may be involved in transcriptional regulation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
ID
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ADHD, ID
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
ASD
Support
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders
ADHD, DD
Recent Recommendation
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
DD, ID, ASD
ADHD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN854R001
stop_gained
c.265C>T
p.Arg89Ter
De novo
Not simplex (positive family history)
GEN854R013
frameshift_variant
c.3066_3069del
p.Glu1022AspfsTer3
De novo
Simplex
GEN854R014
frameshift_variant
c.3066_3069del
p.Glu1022AspfsTer3
De novo
Simplex
GEN854R015
frameshift_variant
c.3460_3463del
p.Val1154IlefsTer7
De novo
Multiplex
GEN854R017
frameshift_variant
c.3724del
p.Gln1242LysfsTer5
Familial
Maternal
Simplex
GEN854R021
frameshift_variant
c.5515_5569del
p.Glu1839HisfsTer6
De novo
Simplex
GEN854R022
frameshift_variant
c.5959_5965dup
p.Gly1989AlafsTer9
De novo
Simplex
GEN854R023
frameshift_variant
c.6142_6145del
p.Lys2048ValfsTer11
De novo
Simplex
GEN854R024
frameshift_variant
c.6160_6161del
p.Glu2054LysfsTer14
De novo
Simplex
GEN854R025
frameshift_variant
c.6160_6161del
p.Glu2054LysfsTer14
De novo
Simplex
GEN854R026
frameshift_variant
c.6160_6161del
p.Glu2054LysfsTer14
De novo
Simplex
GEN854R027
frameshift_variant
c.6160_6161del
p.Glu2054LysfsTer14
De novo
Simplex
GEN854R042
frameshift_variant
c.5740_5741del
p.Glu1914LysfsTer14
De novo
Simplex
GEN854R043
frameshift_variant
c.5672del
p.Asn1891IlefsTer6
De novo
Simplex
GEN854R046
frameshift_variant
c.6160_6161del
p.Glu2054LysfsTer14
De novo
Common
No Common Variants Available
