PRR25proline rich 25
Autism Reports / Total Reports
2 / 2Rare Variants / Common Variants
6 / 0Aliases
-Associated Syndromes
-Chromosome Band
16p13.3Associated Disorders
-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
SFARI Genomic Platforms
Reports related to PRR25 (2 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Support | - | Wang J et al. (2023) | Yes | - |
2 | Primary | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (6)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.116C>T | p.Pro39Leu | missense_variant | De novo | - | Simplex | 37393044 | Wang J et al. (2023) | |
c.7C>T | p.Arg3Ter | stop_gained | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.644-2A>T | - | splice_site_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.305del | p.Asn102MetfsTer98 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.523_541del | p.Glu175ArgfsTer19 | frameshift_variant | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.1102_1105dup | p.Pro369LeufsTer? | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Suggestive Evidence


Score Delta: Score remained at 3
criteria met
See SFARI Gene'scoring criteriaThe literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.
7/1/2023

Increased from to 3
Krishnan Probability Score
Score 0.42404725432899
Ranking 21052/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 3.128965692874E-6
Ranking 14656/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.53519810164607
Ranking 528/18665 scored genes
[Show Scoring Methodology]
CNVs associated with PRR25(1 CNVs)
Sort By:
16p13.3 | 73 | Deletion-Duplication | 103 / 544 |