Craniosynostosis

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

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Green for L412F in affected tissue (mosaic). Associated with unicoronal CSS. Green? - recurrent somatic mosaic variant L412F in affected tissue. Need deep seq and affected tissue - better done by different method? ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Curry-Jones syndrome, somatic mosaic, 601707

Publications

Mode of pathogenicity
Other - please provide details in the comments

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SMO; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

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.

Louise Daugherty (Genomics England Curator)

Note that the current pipeline has the potential for not detecting mosaic conditions, which is dependant on the mutational load and sample tested.
Created: 30 Aug 2017, 10:22 a.m.
Comment on list classification: changed status from Amber to Green due clinical review and evidence in the literature
Created: 30 Aug 2017, 10:16 a.m.
added tags mosaicism and somatic
Created: 16 Aug 2017, 10:10 a.m.
Comment on list classification: Changed from Grey to Amber- need to check with clinical team to consider making Green
Created: 15 Aug 2017, 12:40 p.m.
Comment on phenotypes: added MIM id
Created: 15 Aug 2017, 12:32 p.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Identical mosaic mutation (c.1234C>T; p.Leu412Phe) identified in 8 unrelated cases of Curry Jones syndrome. Functional studies confirm this is gain-of-function, likely lethal as germline mutation. Associated phenotypes are patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas.Cerebellar medulloblastoma has been described in a single affected individual.
Created: 11 Nov 2016, 12:41 p.m.

Mode of inheritance
Other

Phenotypes
Curry-Jones syndrome

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Curry-Jones syndrome, somatic mosaic, 601707
Tags
mosaicism somatic
OMIM
601500
Clinvar variants
Variants in SMO
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SMO. Rating Changed from Green List (high evidence) to Green List (high evidence)

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 - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Aug 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SMO were set to Curry-Jones syndrome, somatic mosaic, 601707

15 Aug 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SMO were set to Curry-Jones syndrome, 601707

11 Nov 2016, Gel status: 0

Created

Andrew Wilkie (University of Oxford)

SMO was created by awilkie

11 Nov 2016, Gel status: 0

Added New Source

Andrew Wilkie (University of Oxford)

SMO was added to Craniosynostosis syndromes phenotypespanel. Sources: Literature