Ocular coloboma

Gene: SMO

Green List (high evidence)

SMO (smoothened, frizzled class receptor)
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 14 panels

3 reviews

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, 9:06 a.m.

Louise Daugherty (Genomics England Curator)

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. Review by Andrew Wilkie (University of Oxford) on Craniosynostosis syndromes phenotypes panel Nov. 11, 2016.
Created: 30 Aug 2017, 10:41 a.m.
Comment on list classification: Changed Red to Green from clinical review and evidence in the literature
Created: 30 Aug 2017, 10:28 a.m.
added somatic tag
Created: 30 Aug 2017, 10:25 a.m.
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, 10:24 a.m.

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Somatic mosaicism only
Created: 17 Nov 2016, 2 p.m.
Somatic mosaic mutations. Recognised on G2P
Created: 17 Nov 2016, 1:59 p.m.

Mode of inheritance
Other

Phenotypes
Curry-Jones syndrome, somatic mosaic 601707

Publications

Details

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

History Filter Activity

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).

6 Feb 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

17 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

17 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

SMO was added to Ocular colobomapanel. Sources: Literature

17 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

SMO was created by agardham