Cytopenias and congenital anaemias
Gene: SMC1AEnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Somatic variants associated with acute myeloid leukemia. (Associated with phenotype Cornelia de Lange syndrome 2 (mim 300590) and as a confirmed G2P. At least 6 variants reported, however, this phenotype is not relevant to this panel)Created: 9 Mar 2017, 3:18 p.m.
Comment on mode of inheritance: MOI is X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) for Cornelia de Lange syndrome 2 300590Created: 9 Mar 2017, 3:14 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 Promyelocytic Leukemia
- Acute myeloid leukaemia (AML)
- Especially in Down syndrome AML
- Tags
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Monogenic short stature
- Osteogenesis imperfecta
- Clefting
- IUGR and IGF abnormalities
- Fetal anomalies
- Severe microcephaly
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
History Filter Activity
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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SMC1A were set to Acute Promyelocytic Leukemia;Acute myeloid leukaemia (AML); Especially in Down syndrome AML
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SMC1A was changed to Unknown
Set publications
Sarah Leigh (Genomics England Curator)Publications for SMC1A were set to 24856830; 26886259
Created
Louise Daugherty (Genomics England Curator)SMC1A was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)SMC1A was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)