Radial dysplasia

Gene: SMC3

Green List (high evidence)

SMC3 (structural maintenance of chromosomes 3)
EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 13 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases for causation. CdLS is associated with variable limb defects, which include radial and thumb anomalies. Therefore considered appropriate for inclusion on this panel.
Created: 11 May 2017, 2:06 p.m.

Rebecca Foulger (Genomics England curator)

Added 'somatic' tag since several publications report that somatic mutations are responsible for the AML phenotype (e.g. PMID:22817890).
Created: 9 Mar 2017, 2:34 p.m.
Comment on list classification: Kept rating as Red: Somatic variants responsible for the AML phenotype. Also case for monogenic mutations is unclear: in >1 case, SMC3 mutations have been found alongside mutations in other genes (PMID:28152414, PMID:22237025).
Created: 9 Mar 2017, 2:32 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Acute myeloid leukaemia (AML); Especially in Down syndrome AML

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 1 Aug 2016, 7:02 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:08 a.m.

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

Phenotypes
Cornelia de Lange syndrome 3 610759

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for SMC3 were set to 25125236

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SMC3 was created by rfoulger

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SMC3 was added to Radial dysplasiapanel. Sources: Other