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Severe Paediatric Disorders

Gene: SMO

Red List (low evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SMO; Recommended initial gene rating: Red List (low evidence); Phenotypes: Severe obesity with neurobehavioral features; Mode of inheritance: Autosomal dominant, Autosoma recessive
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Red
  • Expert list
Phenotypes
  • Severe obesity with neurobehavioral features
OMIM
601500
Clinvar variants
Variants in SMO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SMO were updated from to 30847515

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Severe obesity with neurobehavioral features for gene: SMO

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Severe obesity with neurobehavioral features for gene: SMO

20 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Severe obesity with neurobehavioral features for gene: SMO

19 Feb 2020, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Severe obesity with neurobehavioral features for gene: SMO

19 Feb 2020, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SMO was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Severe obesity with neurobehavioral features for gene: SMO

14 Feb 2020, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SMO.

14 Feb 2020, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to SMO.

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SMO was added gene: SMO was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SMO was set to