ZNF407
Homo sapiens
Gene Name: zinc finger protein 407
Aliases:
Chromosome No: 18
Chromosome Band: 18q22.3
Genetic Category: Rare Single Gene variant-Syndromic
Aliases:
Chromosome No: 18
Chromosome Band: 18q22.3
Genetic Category: Rare Single Gene variant-Syndromic
Summary Statistics:
ASD Reports: 8
Recent Reports: 0
Annotated variants: 24
Associated CNVs: 13
Evidence score: 2
ASD Reports: 8
Recent Reports: 0
Annotated variants: 24
Associated CNVs: 13
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
A de novo balanced translocation disrupting the ZNF407 gene was identified in a patient with intellectual disability and autistic phenotypes, and additional variants in the ZNF407 gene were identified in a separate cohort of patients with non-syndromic ID (Ren et al., 2012).
Molecular Function
Zinc finger protein potentially involved in transcriptional regulation.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual...
ID, ASD
Support
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.
DD, ID
Support
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism
DD, ID
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, hypotonia
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN484R006a
missense_variant
c.5054C>G
p.Ser1685Trp
Familial
Both parents
Multiplex
GEN484R014a
missense_variant
c.5054C>G
p.Ser1685Trp
Familial
Both parents
Multiplex
GEN484R015a
inframe_insertion
c.2814_2816dup
p.Val939dup
Familial
Both parents
Extended multiplex
GEN484R016a
missense_variant
c.2405G>T
p.Gly802Val
Familial
Both parents
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN484C001
missense_variant
rs948615
c.2972A>C
p.Asn972Thr
105 patients with NSID, 100 healthy controls
Discovery