Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: RPS23

Amber List (moderate evidence)

RPS23 (ribosomal protein S23)
EnsemblGeneIds (GRCh38): ENSG00000186468
EnsemblGeneIds (GRCh37): ENSG00000186468
OMIM: 603683, Gene2Phenotype
RPS23 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • Microcephaly, hearing loss, and dysmorphic features
OMIM
603683
Clinvar variants
Variants in RPS23
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: RPS23 was added gene: RPS23 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPS23 were set to 28257692 Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features Mode of pathogenicity for gene: RPS23 was set to Other - please provide details in the comments