Deafness and congenital structural abnormalities
Gene: RPS28EnsemblGeneIds (GRCh38): ENSG00000233927
EnsemblGeneIds (GRCh37): ENSG00000233927
OMIM: 603685, Gene2Phenotype
RPS28 is in 8 panels
3 reviews
Muriel Holder (Clinical Genetics, Guy's Hospital)
Different phenotypeCreated: 17 Oct 2016, 12:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. One variant reported in two unrelated casesCreated: 19 Sep 2016, 1:46 p.m.
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Only two cases reported to date.Created: 14 Oct 2016, 12:17 p.m.
Comment on list classification: This gene was added to the Bilateral microtia panel by Maria Bitner-Glindzicz (UCL).Created: 12 Sep 2016, 3 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Diamond Blackfan anaemia with mandibulofacial dysostosis, 606164
- two cases only described to date
- Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164
- OMIM
- 603685
- Clinvar variants
- Variants in RPS28
- Penetrance
- Complete
- Publications
-
- PMID 24942156
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)RPS28 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Amber
Created
Sarah Leigh (Genomics England Curator)RPS28 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)RPS28 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review