Limb disorders
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 list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Cornelia de Lange syndrome 3 610759
- Cornelia de Lange syndrome 3, 610759
- OMIM
- 606062
- Clinvar variants
- Variants in SMC3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 3
Set mode of inheritance, Set Phenotypes, Set publications
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene SMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cornelia de Lange syndrome 3, 610759 for gene: SMC3 Publications for gene SMC3 were changed from to 25125236
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to SMC3. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to SMC3. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to SMC3. Panel: Limb disorders Emory Genetics Laboratory was added to SMC3. Panel: Limb disorders Expert list was added to SMC3. Panel: Limb disorders Model of inheritance for gene SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to SMC3. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)SMC3 was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)SMC3 was created by Ellen McDonagh