1. Panels
  2. Hydrops fetalis
  3. RPS19
STRs in panel
Prev Next
Regions in panel
Prev Next

Hydrops fetalis

Gene: RPS19

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case report.
Sources: Expert list
Created: 13 Aug 2020, 11:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 1, MIM# 105650

Publications

Created: 13 Aug 2020, 11:15 p.m.

Panel version: 0.149

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 1, MIM# 105650
OMIM
603474
Clinvar variants
Variants in RPS19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps19 has been classified as Red List (Low Evidence).

13 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS19 was added gene: RPS19 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS19 were set to 23349008 Phenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM# 105650 Review for gene: RPS19 was set to RED