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DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SMO-related Curry-Jones syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 27236920, 28386950, 31825089). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01746. The DDG2P confidence category, allelic requirement and molecular mechanism for SMO-related developmental disorder are strong, biallelic_autosomal and loss of function (PMID:32413283). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02966.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Curry-Jones Syndrome, OMIM:601707 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and typically mosaic.

The DDG2P confidence category for the disease SMO-related developmental disorder is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:32413283).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 11:21 a.m.
Panel Version: 3.16

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder; SMO-related Curry-Jones syndrome; MONDO:0011134; OMIM:601707.0; OMIM:241800.0; MONDO:0009436

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 11:21 a.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Mosaicism tag added: In DD-G2P download, mosaic MOI listed for Curry-Jones Syndrome.
Created: 19 Nov 2018, 1:23 p.m.
Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: activating. Mosaic MOI listed in DD-G2P download.
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Curry-Jones Syndrome, OMIM:601707
  • SMO-related developmental disorder
Tags
mosaicism
OMIM
601500
Clinvar variants
Variants in SMO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: SMO was changed from Other - please provide details in the comments to None

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMO were changed from Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder to Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMO were changed from Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder to Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder

6 Oct 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMO were changed from Curry-Jones Syndrome to Curry-Jones Syndrome, OMIM:601707; SMO-related developmental disorder

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene SMO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SMO were updated from to 32413283

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: SMO.

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SMO was added gene: SMO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMO were set to Curry-Jones Syndrome Mode of pathogenicity for gene: SMO was set to Other - please provide details in the comments