Limb disorders
Gene: SMC1AComment when marking as ready: Sufficient evidence for causation. CdLS is associated with variable limb defects, which can involve radii / thumbs and therefore appropriate for inclusion.Created: 11 May 2017, 12:47 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, 6:59 a.m.
Tier 3Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cornelia de Lange syndrome 2 300590
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2, 300590; Cornelia de Lange syndrome 2 300590 to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370
Ana Beleza: Tier 3
Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A Publications for gene SMC1A were changed from to 20358602
Expert Review Green was added to SMC1A. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to SMC1A. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to SMC1A. Panel: Limb disorders Emory Genetics Laboratory was added to SMC1A. Panel: Limb disorders Expert list was added to SMC1A. Panel: Limb disorders Model of inheritance for gene SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
London South East RGC GSTT was added to SMC1A. Panel: Limb disorders
SMC1A was added to Limb disorders panel. Sources: Viapath
SMC1A was created by Ellen McDonagh