Craniosynostosis
Gene: SMO
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Curry-Jones syndrome, somatic mosaic, MIM# 601707
Mosaic activating variants in SMO associated with Curry-Jones syndrome - craniosynostosis is a key feature.
Sources: LiteratureCreated: 17 Jun 2020, 1:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Curry-Jones syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: SMO were changed from Curry-Jones syndrome to Curry-Jones syndrome, somatic mosaic, MIM# 601707
Tag somatic tag was added to gene: SMO.
Gene: smo has been classified as Green List (High Evidence).
Gene: smo has been classified as Green List (High Evidence).
gene: SMO was added gene: SMO was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMO were set to 27236920 Phenotypes for gene: SMO were set to Curry-Jones syndrome Penetrance for gene: SMO were set to Complete Mode of pathogenicity for gene: SMO was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: SMO was set to GREEN