Anophthalmia or microphthalmia

Gene: 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, 9:04 a.m.

Green List (high evidence)

Comment on list classification: Changed Red to Green from clinical review and evidence in the literature

Created: 30 Aug 2017, 10:46 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, 10:45 a.m.

added tags mosaicism and somatic

Created: 30 Aug 2017, 10:45 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, 10:44 a.m.

Mode of inheritance
Other

Phenotypes
Curry-Jones syndrome, somatic mosaic 601707

Publications

• 27236920