Anophthalmia_Microphthalmia_Coloboma

Gene: SMO

Green List (high evidence)

SMO (smoothened, frizzled class receptor)
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microphthalmia and coloboma are part of the phenotype of this somatic mosaic condition.
Sources: Expert list
Created: 24 Dec 2019, 12:17 a.m.

Mode of inheritance
Other

Phenotypes
Curry-Jones syndrome, somatic mosaic, MIM#601707

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