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Intellectual disability

Gene: PCBP1

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PCBP1 (poly(rC) binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000169564
EnsemblGeneIds (GRCh37): ENSG00000169564
OMIM: 601209, Gene2Phenotype
PCBP1 is in 1 panel

1 review

Aleš Maver (Clinical Institute of Medical Genetics)

I don't know

Deb et al. (2026) identified 16 distinct de novo PCBP1 variants reported as pathogenic in 17 affected individuals from 16 unrelated families. All individuals had intellectual disability, with autism spectrum disorder a prominent feature. Functional studies in primary mouse hippocampal neurons demonstrated impaired dendritic arborization associated with PCBP1 variants. RNA sequencing of patient-derived T cells identified a distinctive splicing signature with increased exon skipping, supporting disruption of PCBP1-mediated splicing regulation. The human genetic and functional evidence supports a monoallelic PCBP1-related neurodevelopmental disorder.
Sources: Literature
Created: 21 Oct 2026, 10:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with intellectual disability and autism spectrum disorder

Publications

Created: 21 Oct 2026, 10:08 a.m.

Panel version: 11.45

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Neurodevelopmental disorder with intellectual disability and autism spectrum disorder
OMIM
601209
Clinvar variants
Variants in PCBP1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

21 Oct 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Aleš Maver (Clinical Institute of Medical Genetics)

gene: PCBP1 was added gene: PCBP1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PCBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCBP1 were set to 42749777 Phenotypes for gene: PCBP1 were set to Neurodevelopmental disorder with intellectual disability and autism spectrum disorder Penetrance for gene: PCBP1 were set to unknown Review for gene: PCBP1 was set to AMBER