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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.

External Links

        

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
Integrating de novo and inherited variants in 42
ASD
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
 GEN484R001 
 translocation 
  
  
 De novo 
  
 Simplex 
 GEN484R002 
 missense_variant 
 c.263A>G 
 p.Lys88Arg 
 Unknown 
  
  
 GEN484R003 
 missense_variant 
 c.1436A>G 
 p.His479Arg 
 De novo 
  
  
 GEN484R004 
 missense_variant 
 c.3640C>G 
 p.Pro1195Ala 
 De novo 
  
  
 GEN484R005 
 missense_variant 
 c.6112G>C 
 p.Val2019Leu 
 Familial 
 Paternal 
  
 GEN484R006a 
 missense_variant 
 c.5054C>G 
 p.Ser1685Trp 
 Familial 
 Both parents 
 Multiplex 
 GEN484R007 
 missense_variant 
 c.3736C>G 
 p.His1246Asp 
 De novo 
  
 Simplex 
 GEN484R008 
 intergenic_variant 
 insT 
  
  
  
 Unknown 
 GEN484R009 
 intergenic_variant 
 insTTT 
  
  
  
 Unknown 
 GEN484R010 
 intron_variant 
 c.5249+12359C>A 
  
  
  
 Unknown 
 GEN484R011 
 intron_variant 
 c.5249+12363C>G 
  
  
  
 Unknown 
 GEN484R012 
 intron_variant 
 c.5249+12357G>A 
  
  
  
 Unknown 
 GEN484R013 
 complex_structural_alteration 
  
  
 De novo 
  
  
 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 
 GEN484R017a 
 missense_variant 
 c.2884C>G 
 p.Arg962Gly 
 Familial 
 Paternal 
 Multiplex 
 GEN484R017b 
 missense_variant 
 c.3642G>C 
 p.Lys1214Asn 
 Familial 
 Maternal 
 Multiplex 
 GEN484R018 
 missense_variant 
 c.100G>A 
 p.Gly34Arg 
 De novo 
  
  
 GEN484R019 
 synonymous_variant 
 c.651T>C 
 p.Cys217%3D 
 De novo 
  
  
 GEN484R020 
 missense_variant 
 c.5066A>C 
 p.Asp1689Ala 
 De novo 
  
  
 GEN484R021a 
 missense_variant 
 c.5722G>A 
 p.Asp1908Asn 
 Familial 
 Paternal 
  
 GEN484R021b 
 missense_variant 
 c.6734T>C 
 p.Leu2245Pro 
 Familial 
 Maternal 
  

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 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
18
Duplication
 2
 
18
Duplication
 2
 
18
Duplication
 2
 
18
Deletion
 5
 
18
Deletion
 4
 
18
Deletion
 8
 
18
Deletion-Duplication
 5
 
18
Deletion-Duplication
 8
 
18
Deletion
 3
 
18
Deletion
 1
 
18
Deletion-Duplication
 18
 
18
Deletion-Duplication
 5
 
18
Deletion
 1
 

No Animal Model Data Available

 

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