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Red cell disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 5 Mar 2021, 10:29 p.m. | Last Modified: 5 Mar 2021, 10:29 p.m.
Panel Version: 0.62

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110

Publications

Created: 5 Mar 2021, 10:29 p.m.
Last Modified: 5 Mar 2021, 10:29 p.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.65

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anaemia 1, MIM# 105650
  • MONDO:0007110
OMIM
603474
Clinvar variants
Variants in RPS19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps19 has been classified as Green List (High Evidence).

17 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS19 were changed from Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 105650 Diamond-Blackfan anemia 1; 105650 Diamond_Blackfan Anemia 1; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia to Diamond-Blackfan anaemia 1, MIM# 105650; MONDO:0007110

17 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPS19 were set to 9988267

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 105650 Diamond-Blackfan anemia 1; 105650 Diamond_Blackfan Anemia 1; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia for gene: RPS19

15 Sep 2020, Gel status: 3

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 Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS19 were set to 9988267 Phenotypes for gene: RPS19 were set to 105650 Diamond-Blackfan anemia 1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia; 105650 Diamond_Blackfan Anemia 1; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 1; Diamond Blackfan anemia