Mosaic skin disorders - deep sequencing
Gene: SMOEnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
L412FCreated: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Curry-Jones syndrome (601707)
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SMO; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Curry-Jones syndrome
- OMIM
- 601500
- Clinvar variants
- Variants in SMO
- Penetrance
- None
- 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
Set publications
Catherine Snow (Genomics England)Publications for gene SMO were changed from to 27236920
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SMO.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SMO was added gene: SMO was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMO were set to Curry-Jones syndrome