Ocular coloboma
Gene: SMO
SMO (smoothened, frizzled class receptor)
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 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 literatureCreated: 30 Aug 2017, 10:28 a.m.
added somatic tagCreated: 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 testedCreated: 30 Aug 2017, 10:24 a.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Somatic mosaicism onlyCreated: 17 Nov 2016, 2 p.m.
Somatic mosaic mutations. Recognised on G2PCreated: 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
- OMIM
- 601500
- Clinvar variants
- Variants in SMO
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb disorders
- DDG2P
- Structural eye disease
- Ocular coloboma
- Mosaic skin disorders - deep sequencing
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Fetal anomalies
- Severe microcephaly
- Familial Hirschsprung Disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Malformations of cortical development
- Anophthalmia or microphthalmia
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