Ocular colobomaGene: SMO
Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Created: 5 Nov 2018, 9:06 a.m.
Identical mosaic mutation (c.1234C>T; p.Leu412Phe) identified in 8 unrelated cases of Curry Jones syndrome. Functional studies confirm this is gain-of-function, likely lethal as germline mutation. Associated phenotypes are patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas.Cerebellar medulloblastoma has been described in a single affected individual. Review by Andrew Wilkie (University of Oxford) on Craniosynostosis syndromes phenotypes panel Nov. 11, 2016.
Created: 30 Aug 2017, 10:41 a.m.
Comment on list classification: Changed Red to Green from clinical review and evidence in the literature
Created: 30 Aug 2017, 10:28 a.m.
added somatic tag
Created: 30 Aug 2017, 10:25 a.m.
Note that the current pipeline has the potential for not detecting mosaic conditions, which is dependant on the mutational load and sample tested
Created: 30 Aug 2017, 10:24 a.m.
Comment when marking as ready: Somatic mosaicism only
Created: 17 Nov 2016, 2 p.m.
Somatic mosaic mutations. Recognised on G2P
Created: 17 Nov 2016, 1:59 p.m.
Mode of inheritance
Curry-Jones syndrome, somatic mosaic 601707
Mode of inheritance for gene: SMO was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Promoted to version 1 on 6th February 2016 by Alice Gardham
This gene has been classified as Red List (Low Evidence).
SMO was added to Ocular colobomapanel. Sources: Literature
SMO was created by agardham