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Intellectual disability

Gene: RPS23

Amber List (moderate evidence)

RPS23 (ribosomal protein S23)
EnsemblGeneIds (GRCh38): ENSG00000186468
EnsemblGeneIds (GRCh37): ENSG00000186468
OMIM: 603683, Gene2Phenotype
RPS23 is in 3 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Made this gene amber, as awaiting a further case.
Created: 18 Sep 2017, 10:52 a.m.
Two unrelated patients reported in PMID: 28257692.
Created: 18 Sep 2017, 10:51 a.m.

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

Phenotypes
Brachycephaly, trichomegaly, and developmental delay 617412

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Brachycephaly, trichomegaly, and developmental delay 617412
Tags
watchlist
OMIM
603683
Clinvar variants
Variants in RPS23
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to RPS23.

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

18 Sep 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

18 Sep 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS23 was added to Intellectual disabilitypanel. Sources: Literature

18 Sep 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RPS23 was created by ellenmcdonagh