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Mosaic skin disorders

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Curry-Jones syndrome, MIM#601707

Created: 18 Feb 2021, 7:55 a.m.
Last Modified: 18 Feb 2021, 7:55 a.m.
Panel version: 0.11

Mathew Wallis (Tasmanian Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 18 Feb 2021, 6:11 a.m.
Last Modified: 18 Feb 2021, 6:11 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Curry-Jones syndrome, MIM#601707
Tags
somatic
OMIM
601500
Clinvar variants
Variants in SMO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, 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).

18 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMO were changed from Curry-Jones syndrome to Curry-Jones syndrome, MIM#601707

18 Feb 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag somatic tag was added to gene: SMO.

18 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMO was added gene: SMO was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp 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