Polymicrogyria and Schizencephaly
Gene: SMOEnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
PMID 27236920 summarises the clinical and molecular findings in 8 unrelated individuals (including individuals reported previously). All 8 had the same somatic mosaic missense variant c.1234C>T p.(Leu412Phe) (absent from gnomAD). 2 had polymicrogyria. Other brain abnormalities reported include agenesis of the corpus callosum, hemimegalencephaly, ventriculomegaly. 1 individual was reported to have a normal brain.
In mouse embryonic fibroblasts, this variant results in constitutive activation (PMID: 24859340).
Other, biallelic germline variants in this gene are associated with Pallister-Hall-like syndrome (MIM#241800) but the MRI findings in individuals with this syndrome don't appear to be applicable to this panel.
Sources: LiteratureCreated: 24 Aug 2020, 3:46 a.m.
Mode of inheritance
Unknown
Phenotypes
Curry-Jones syndrome, somatic mosaic MIM#601707
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
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Curry-Jones syndrome, somatic mosaic MIM#601707
- Tags
- OMIM
- 601500
- Clinvar variants
- Variants in SMO
- Penetrance
- None
- 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
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smo has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smo has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: SMO.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Paul De Fazio (Victorian Clinical Genetics Services)gene: SMO was added gene: SMO was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: SMO was set to Unknown Publications for gene: SMO were set to 27236920; 24859340 Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic MIM#601707 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 AMBER gene: SMO was marked as current diagnostic