Cytopenias and congenital anaemias
Gene: SMC3
SMC3 (structural maintenance of chromosomes 3)
EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000108055
EnsemblGeneIds (GRCh37): ENSG00000108055
OMIM: 606062, Gene2Phenotype
SMC3 is in 12 panels
2 reviews
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- Especially in Down syndrome AML
- Tags
- OMIM
- 606062
- Clinvar variants
- Variants in SMC3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Set publications
Rebecca Foulger (Genomics England curator)Publications for SMC3 were set to 22817890; 25006131; 28152414, 22237025; 27470916
9 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)SMC3 was created by LouiseD
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)SMC3 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)