Deafness and congenital structural abnormalities
Gene: RPS28
Different phenotypeCreated: 17 Oct 2016, 12:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Associated with phenotype in OMIM, not in G2P / DD. One variant reported in two unrelated casesCreated: 19 Sep 2016, 1:46 p.m.
Publications
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.
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.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
RPS28 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Amber
RPS28 was created by sleigh
RPS28 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review