Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: SMO

Red List (low evidence)

SMO (smoothened, frizzled class receptor)
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 11 panels

3 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Mild intellectual disability present in some individuals. Therefore not considered prevalent enough or significant enough for this panel.
Created: 31 Oct 2017, noon

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Curry-Jones syndrome, somatic mosaic 601707

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : activating
Created: 27 Jul 2017, 8:30 p.m.

Mode of inheritance
Unknown

Publications

Mode of pathogenicity
Other

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 4:08 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Amber
Phenotypes
  • Curry-Jones syndrome, somatic mosaic 601707
OMIM
601500
Clinvar variants
Variants in SMO
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to SMO. Panel: Intellectual disability Model of inheritance for gene SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene SMO was set to ['27236920']

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SMO was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SMO was created by BRIDGE