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  3. RPS28
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Clefting

Gene: RPS28

Amber List (moderate evidence)
RPS28 (ribosomal protein S28)
EnsemblGeneIds (GRCh38): ENSG00000233927
EnsemblGeneIds (GRCh37): ENSG00000233927
OMIM: 603685, Gene2Phenotype
RPS28 is in 8 panels

1 review

Helen Brittain (Genomics England Curator)

I don't know

Only two cases to date. Phenotype seems appropriate however.
Created: 26 May 2017, 7:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Created: 26 May 2017, 7:17 a.m.

Panel version: 0.191

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
  • DBA15
  • Cleft palate
OMIM
603685
Clinvar variants
Variants in RPS28
Penetrance
Complete
Panels with this gene

History Filter Activity

13 Aug 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to RPS28. Panel: Clefting Phenotypes for gene RPS28 were set to DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DBA15, Cleft palate

31 May 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

RPS28 was created by helen.brittain

26 May 2017, Gel status: 2

Added New Source

Helen Brittain (Genomics England Curator)

RPS28 was added to Cleftingpanel. Sources: Expert Review Amber