PAX5
Homo sapiens
Gene Name: Paired box 5
Aliases: ALL3, BSAP
Chromosome No: 9
Chromosome Band: 9p13.2
Genetic Category: Rare Single Gene variant--Rare single gene variant/Functional
Aliases: ALL3, BSAP
Chromosome No: 9
Chromosome Band: 9p13.2
Genetic Category: Rare Single Gene variant--Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 10
Recent Reports: 5
Annotated variants: 25
Associated CNVs: 7
Evidence score: 4
ASD Reports: 10
Recent Reports: 5
Annotated variants: 25
Associated CNVs: 7
Evidence score: 4
Gene Score: 2
Associated Disorders: |
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Relevance to Autism
De novo loss-of-function variants in the PAX5 gene have been identified in two simplex ASD cases (Iossifov et al., 2014; O'Roak et al., 2014). A de novo likely damaging missense variant in PAX5 was identified in an ASD proband from the SPARK cohort (Feliciano et al., 2019); in the same report, a meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified PAX5 as an ASD candidate gene with a q-value 0.1.
Molecular Function
May play an important role in B-cell differentiation as well as neural development and spermatogenesis.
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Recent Recommendation
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
ASD, DD, ID
ADHD, epilepsy/seizures
Recent Recommendation
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
ASD
Recent Recommendation
Biallelic PAX5 mutations cause hypogammaglobulinemia
ASD