Callosome
Gene: SMOEnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Somatic recurrent missense variant, L412F causes Curry-Jones syndrome. ACC is part of the phenotype.Created: 4 Jun 2020, 11 p.m. | Last Modified: 4 Jun 2020, 11 p.m.
Panel Version: 0.144
Mode of inheritance
Other
Phenotypes
Curry-Jones syndrome, somatic mosaic 601707
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Curry-Jones syndrome, somatic mosaic 601707
- Tags
- OMIM
- 601500
- Clinvar variants
- Variants in SMO
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: SMO.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smo has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SMO were changed from to Curry-Jones syndrome, somatic mosaic 601707
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SMO were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SMO was changed from Unknown to Other
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMO was added gene: SMO was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMO was set to Unknown