Limb disordersGene: 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, 9:05 a.m.
Comment on list classification: Updated rating from Red to Green: sufficient unrelated cases of syndactyly and/or preaxial polydactyly in Curry-Jones patients for inclusion on panel.
Created: 16 Oct 2018, 2:08 p.m.
Comment on mode of inheritance: Somatic mosaic.
Created: 16 Oct 2018, 2:07 p.m.
Added 'somatic' tag.
Created: 16 Oct 2018, 2:06 p.m.
PMID:27236920 (Twigg et al, 2016) analysed 10 unrelated patients with Curry-Jones syndrome including 6 previously reported patients. They identified somatic mosaicism for the identical L412F variant in SMO in 8 of the patients. The patients all showed cutaneous syndactyly and/or preaxial polydactyly.
Created: 2 Oct 2018, 2:23 p.m.
Comment on mode of pathogenicity: Somatic mosaicism.
Created: 2 Oct 2018, 2:21 p.m.
Added 'mosaicism' tag based on PMID:27236920, DD-G2P and OMIM information.
Created: 2 Oct 2018, 2:20 p.m.
Rebecca Foulger: Added 'mosaicism' tag based on
Mode of inheritance for gene: SMO was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: smo has been classified as Green List (High Evidence).
Mode of inheritance for gene: SMO was changed from to Other
Tag somatic tag was added to gene: SMO.
Phenotypes for gene: SMO were changed from Polydactyly to Polydactyly; Curry-Jones syndrome, somatic mosaic, MIM:601500; Cutaneous syndactyly; Preaxial polydactyly
Publications for gene: SMO were set to
Mode of pathogenicity for gene: SMO was changed from None to Other
Tag mosaicism tag was added to gene: SMO.
SMO was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
SMO was created by Ellen McDonagh