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Hearing loss

Gene: PPP3R1

Red List (low evidence)

PPP3R1 (protein phosphatase 3 regulatory subunit B, alpha)
EnsemblGeneIds (GRCh38): ENSG00000221823
EnsemblGeneIds (GRCh37): ENSG00000221823
OMIM: 601302, Gene2Phenotype
PPP3R1 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

PMID: 32337552 - Lezirovitz et al 2020- ~200 Kb genomic duplication in 2p14 was found that segregates with postlingual progressive sensorineural autosomal dominant hearing loss in a large Brazilian family with 20 affected individuals (the reported DFNA58 family from PMID: 19159392). The duplication covers PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), as well as four uncharacterized long non-coding RNA genes and part of a novel protein-coding gene. Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea and CNRIP1 mRNA was overexpressed in affected family members.
Sources: Literature
Created: 2 Jul 2020, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Deafness, autosomal dominant 58 MIM#615654

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Deafness, autosomal dominant 58 MIM#615654
OMIM
601302
Clinvar variants
Variants in PPP3R1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jul 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PPP3R1 was added gene: PPP3R1 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: PPP3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP3R1 were set to 32337552; 19159392 Phenotypes for gene: PPP3R1 were set to Deafness, autosomal dominant 58 MIM#615654