Clefting

Gene: KDM1A

I don't know

To clarify the status of this gene being Amber on the clefitng panel: Initially the gene was Red as the clefting panel at the time was more exclusive rather than inclusive eg: Clefting needed to be a key feature. Feedback from the clinical team at the time highlighted that the phenotype was not very distinctive and the variants, though de novo, were missense, and there was nothing very convincing about their clustering or function. However, as the panel has become more inclusive for clefting, this gene with the current evidences is sufficient to make it amber

Created: 1 Jun 2017, 10:06 a.m.

Comment on list classification: Changed from Amber to Red, due to expert review and feedback form in-house clinical team

Created: 20 Mar 2017, 10:58 a.m.

Comment on list classification: There is now evidence for three unrelated families for this disorder (that includes clefting as a phenotype).

Created: 26 Jan 2017, 3:47 p.m.

Comment on list classification: Updated rating from Red to Amber after internal discussion: MIM:616728 includes a clefting phenotype but only 2 variants/cases in OMIM/ClinVar plus 1 further variant of unknown significance from PMID:23020937. No additional cases found in literature at time of curation, so agreed Amber.

Created: 30 May 2017, 2:40 p.m.

Red List (low evidence)