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Relevance to Autism

Transmission And De Novo Association (TADA) analysis of whole-genome sequencing data from a cohort of 4,551 individuals in 1,004 multiplex families having two or more autistic children identified PRR25 as a novel ASD risk gene with a false discovery rate (FDR) less than 0.1. A de novo missense variant in this gene has also been observed in a Chinese ASD proband (Wang et al., 2023).

Molecular Function

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1412R001 
 stop_gained 
 c.7C>T 
 p.Arg3Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN1412R002 
 frameshift_variant 
 c.305del 
 p.Asn102MetfsTer98 
 Familial 
 Paternal 
 Multiplex 
 GEN1412R003 
 frameshift_variant 
 c.523_541del 
 p.Glu175ArgfsTer19 
 Familial 
 Maternal 
 Multiplex 
 GEN1412R004 
 splice_site_variant 
 c.644-2A>T 
  
 Familial 
 Paternal 
 Multiplex 
 GEN1412R005 
 frameshift_variant 
 c.1102_1105dup 
 p.Pro369LeufsTer? 
 Familial 
 Paternal 
 Multiplex 
 GEN1412R006 
 missense_variant 
 c.116C>T 
 p.Pro39Leu 
 De novo 
  
 Simplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
16
Deletion-Duplication
 68
 

No Animal Model Data Available

No PIN Data Available
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