Intellectual disability update Jan 2018

Gene: MED23

Comment when marking as ready: Two reported cases to date. Considered amber and watchlist on current evidence.

Created: 5 Mar 2018, 1:31 p.m.

Comment on list classification: Changed rating from Red to Amber, but passed onto clinical team, potentially this gene could be rated Green.

Created: 19 Feb 2018, 12:50 p.m.

Comment on publications: Added publications to support cases where variants in MED23 resulted in an intellectual disability phenotype. Currently there are two unrelated families in the literature, one a large Algerian consanguineous family (5 affecteds) with ID PMID: 21868677 (2011), the other, two brothers in a nonconsanguineous family with ID, PMID: 25845469 (2015) with two additonal novel mutations in MED23 that caused an ID phenotype (submitted to Clinvar) from Undiagnosed Diseases Program Translational Research Laboratory, USA. However, in addition to this, there is another pathogenic variant associated specifically MED23 and ID in ClinVar from a submitter in Iran (Genomic Research Center Shahid Beheshti University of Medical Sciences) from a clinical test. To be reviewed by clinical team.

Created: 15 Feb 2018, 4:52 p.m.