Radial dysplasia
Gene: SMC3Comment 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.
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.
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
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 7:02 a.m.
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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
Publications for SMC3 were set to 25125236
This gene has been classified as Green List (High Evidence).
SMC3 was created by rfoulger
SMC3 was added to Radial dysplasiapanel. Sources: Other