PRR25
Homo sapiens
Gene Name: proline rich 25
Aliases: gs64
Chromosome No: 16
Chromosome Band: 16p13.3
Genetic Category: Rare single gene variant
Aliases: gs64
Chromosome No: 16
Chromosome Band: 16p13.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 1
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
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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
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1412R002
frameshift_variant
c.305del
p.Asn102MetfsTer98
Familial
Paternal
Multiplex
GEN1412R003
frameshift_variant
c.523_541del
p.Glu175ArgfsTer19
Familial
Maternal
Multiplex
GEN1412R005
frameshift_variant
c.1102_1105dup
p.Pro369LeufsTer?
Familial
Paternal
Multiplex
Common
No Common Variants Available