Structural eye disease
Gene: SMO
Twigg 2016: 8 individuals with somatic mosaicism for a nonsynonymous variant in SMO (c.1234C>T [p.Leu412Phe]). 4 of the individuals present coloboma and/microphthalmia.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Twigg et al. 2016 reported 10 families with Curry-Jones Syndrome and mosaic SMO variants of which at least 4 had structural eye anomaliesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Curry-Jones syndrome, somatic mosaic 601707
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes
Curry-Jones Syndrome, CRJS
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Twigg et al. 2016 reported 10 families with Curry-Jones Syndrome and mosaic SMO variants of which at least 4 had structural eye anomaliesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Curry-Jones syndrome, somatic mosaic 601707
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Tag mosaicism tag was added to gene: SMO. Tag somatic tag was added to gene: SMO.
Source London North GLH was added to SMO.
Source NHS GMS was added to SMO. Mode of pathogenicity for gene SMO was changed from to Other - please provide details in the comments Added phenotypes Curry-Jones syndrome, somatic mosaic 601707 for gene: SMO
gene: SMO was added gene: SMO was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMO were set to 27236920 Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic 601707