Structural eye disease
Gene: SMOEnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels
3 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Twigg 2016: 8 individuals with somatic mosaicism for a nonsynonymous variant in SMO (c.1234C>T [p.Leu412Phe]). 4 of the individuals present coloboma and/microphthalmia.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Twigg et al. 2016 reported 10 families with Curry-Jones Syndrome and mosaic SMO variants of which at least 4 had structural eye anomaliesCreated: 19 Jun 2019, 3:32 p.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
Variants in this GENE are reported as part of current diagnostic practice
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Curry-Jones Syndrome, CRJS
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Twigg et al. 2016 reported 10 families with Curry-Jones Syndrome and mosaic SMO variants of which at least 4 had structural eye anomaliesCreated: 17 Apr 2019, 3:30 p.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
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Curry-Jones syndrome, somatic mosaic 601707
- Tags
- OMIM
- 601500
- Clinvar variants
- Variants in SMO
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag mosaicism tag was added to gene: SMO. Tag somatic tag was added to gene: SMO.
Added New Source
Ivone Leong (Genomics England Curator)Source London North GLH was added to SMO.
Added New Source, Set mode of pathogenicity, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SMO. Mode of pathogenicity for gene SMO was changed from to Other - please provide details in the comments Added phenotypes Curry-Jones syndrome, somatic mosaic 601707 for gene: SMO
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SMO was added gene: SMO was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMO were set to 27236920 Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic 601707