Radial dysplasia
Gene: SMC3EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 12 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)
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 reportedCreated: 1 Aug 2016, 7:02 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 3Created: 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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for SMC3 were set to 25125236
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Rebecca Foulger (Genomics England curator)SMC3 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)SMC3 was added to Radial dysplasiapanel. Sources: Other