Limb disorders
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
Ana Beleza: Tier 3
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
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
London South East RGC GSTT was added to SMC3. Panel: Limb disorders
SMC3 was added to Limb disorders panel. Sources: Viapath
SMC3 was created by Ellen McDonagh