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Fetal anomalies

Gene: RPS19

Green List (high evidence)

RPS19 (ribosomal protein S19)
EnsemblGeneIds (GRCh38): ENSG00000105372
EnsemblGeneIds (GRCh37): ENSG00000105372
OMIM: 603474, Gene2Phenotype
RPS19 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 1 Apr 2019, 11:26 a.m.
DDG2P rating in original PAGE list: Confirmed for RPS19-RELATED DIAMOND-BLACKFAN ANEMIA
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • RPS19-RELATED DIAMOND-BLACKFAN ANEMIA
OMIM
603474
Clinvar variants
Variants in RPS19
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RPS19 was added gene: RPS19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA