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Intellectual disability syndromic and non-syndromic

Gene: PCBP2

Green List (high evidence)

PCBP2 (poly(rC) binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000197111
EnsemblGeneIds (GRCh37): ENSG00000197111
OMIM: 601210, Gene2Phenotype
PCBP2 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3x individuals with de novo variants
Motor and speech delay and ASD
2x missense + 1x fs

There are 2 NMD variants with 9 and 8 hets respectively in gnomad v4, however the IGV looks to be low quality
Sources: Literature
Created: 1 Aug 2024, 7:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, PCBP2-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, PCBP2-related
OMIM
601210
Clinvar variants
Variants in PCBP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: pcbp2 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: pcbp2 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: PCBP2 was added gene: PCBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCBP2 were set to 38965372 Phenotypes for gene: PCBP2 were set to neurodevelopmental disorder MONDO:0700092, PCBP2-related Review for gene: PCBP2 was set to GREEN gene: PCBP2 was marked as current diagnostic