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Intellectual disability

Gene: SMC3

Green List (high evidence)

SMC3 (structural maintenance of chromosomes 3)
EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 14 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications suggested by reviewers
Created: 19 Dec 2017, 4:58 p.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 4:57 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CORNELIA DE LANGE SYNDROME TYPE 3 (CDLS3)

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P.
Created: 31 Oct 2017, 10:58 a.m.
SMC3 is a confirmed DD-G2P gene for CDL3 Cornelia-de-Lange syndrome-3 (CDL3), which includes ID as a phenotype. Sufficient cases to support causation, and Green rating agreed by Arianna Tucci.
Created: 31 Oct 2017, 9:23 a.m.

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 : Uncertain
Created: 27 Jul 2017, 8:30 p.m.

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

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cornelia de Lange syndrome 3, 610759
  • CDLS3
OMIM
606062
Clinvar variants
Variants in SMC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SMC3.

12 Mar 2018, Gel status: 4

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.

19 Dec 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SMC3 were set to Cornelia de Lange syndrome 3, 610759; CDLS3

19 Dec 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SMC3 were set to 17273969; 25655089; 25125236; 25529582

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to SMC3. Panel: Intellectual disability Model of inheritance for gene SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene SMC3 was set to ['17273969', ' 25655089 ']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SMC3 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMC3 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen