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Red cell disorders

Gene: RPS28

Amber List (moderate evidence)
RPS28 (ribosomal protein S28)
EnsemblGeneIds (GRCh38): ENSG00000233927
EnsemblGeneIds (GRCh37): ENSG00000233927
OMIM: 603685, Gene2Phenotype
RPS28 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported in 2014, none since.
Created: 23 Jul 2020, 1:28 a.m. | Last Modified: 23 Jul 2020, 1:28 a.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164

Publications

Created: 23 Jul 2020, 1:28 a.m.
Last Modified: 23 Jul 2020, 1:28 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
OMIM
603685
Clinvar variants
Variants in RPS28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps28 has been classified as Amber List (Moderate Evidence).

16 Sep 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164

16 Sep 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS28 were changed from 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164

15 Oct 2020, Gel status: 2

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 for gene: RPS28 Publications for gene RPS28 were updated from 24942156; 20301769 to 20301769; 24942156

15 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS28 was added gene: RPS28 was added to Rare anaemia_GEL. Sources: NHS GMS,Yorkshire and North East GLH,Expert Review Amber,Wessex and West Midlands GLH Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPS28 were set to 24942156; 20301769 Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164; 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis