Anophthalmia_Microphthalmia_Coloboma
Gene: SMO
SMO (smoothened, frizzled class receptor)
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Microphthalmia and coloboma are part of the phenotype of this somatic mosaic condition.
Sources: Expert listCreated: 24 Dec 2019, 12:17 a.m.
Mode of inheritance
Other
Phenotypes
Curry-Jones syndrome, somatic mosaic, MIM#601707
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Curry-Jones syndrome, somatic mosaic, MIM#601707
- Tags
- OMIM
- 601500
- Clinvar variants
- Variants in SMO
- Penetrance
- None
- Panels with this gene
History Filter Activity
4 Jun 2020, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: SMO.
24 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smo has been classified as Green List (High Evidence).
24 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smo has been classified as Green List (High Evidence).
24 Dec 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMO was added gene: SMO was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list Mode of inheritance for gene: SMO was set to Other Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic, MIM#601707 Review for gene: SMO was set to GREEN