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Limb disorders

Gene: SMO

Green List (high evidence)

SMO (smoothened, frizzled class receptor)
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Changed MOI from 'Other' in order to capture variants within this gene in our current tiering pipeline.
Created: 5 Nov 2018, 9:05 a.m.
Comment on list classification: Updated rating from Red to Green: sufficient unrelated cases of syndactyly and/or preaxial polydactyly in Curry-Jones patients for inclusion on panel.
Created: 16 Oct 2018, 2:08 p.m.
Comment on mode of inheritance: Somatic mosaic.
Created: 16 Oct 2018, 2:07 p.m.
Added 'somatic' tag.
Created: 16 Oct 2018, 2:06 p.m.
PMID:27236920 (Twigg et al, 2016) analysed 10 unrelated patients with Curry-Jones syndrome including 6 previously reported patients. They identified somatic mosaicism for the identical L412F variant in SMO in 8 of the patients. The patients all showed cutaneous syndactyly and/or preaxial polydactyly.
Created: 2 Oct 2018, 2:23 p.m.
Comment on mode of pathogenicity: Somatic mosaicism.
Created: 2 Oct 2018, 2:21 p.m.
Added 'mosaicism' tag based on PMID:27236920, DD-G2P and OMIM information.
Created: 2 Oct 2018, 2:20 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Curry-Jones syndrome, somatic mosaic, MIM:601500
  • Cutaneous syndactyly
  • Preaxial polydactyly
Tags
mosaicism somatic
OMIM
601500
Clinvar variants
Variants in SMO
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Added 'mosaicism' tag based on

5 Nov 2018, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SMO was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

16 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: smo has been classified as Green List (High Evidence).

16 Oct 2018, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SMO was changed from to Other

16 Oct 2018, Gel status: 1

Added Tag

Rebecca Foulger (Genomics England curator)

Tag somatic tag was added to gene: SMO.

2 Oct 2018, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SMO were changed from Polydactyly to Polydactyly; Curry-Jones syndrome, somatic mosaic, MIM:601500; Cutaneous syndactyly; Preaxial polydactyly

2 Oct 2018, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SMO were set to

2 Oct 2018, Gel status: 1

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for gene: SMO was changed from None to Other

2 Oct 2018, Gel status: 1

Added Tag

Rebecca Foulger (Genomics England curator)

Tag mosaicism tag was added to gene: SMO.

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMO was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SMO was created by Ellen McDonagh