Cytopenias and congenital anaemiasGene: SMC1A
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 300590
Created: 9 Mar 2017, 3:14 p.m.
Mode of inheritance
Acute myeloid leukaemia (AML); Especially in Down syndrome AML
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Phenotypes for SMC1A were set to Acute Promyelocytic Leukemia;Acute myeloid leukaemia (AML); Especially in Down syndrome AML
Mode of inheritance for SMC1A was changed to Unknown
Publications for SMC1A were set to 24856830; 26886259
SMC1A was created by LouiseD
SMC1A was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)