Radial dysplasia
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.
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.
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
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 to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SMC1A were set to 20358602
SMC1A was added to Radial dysplasiapanel. Sources: Other
SMC1A was created by rfoulger