Radial dysplasia
Gene: SMC1AEnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
4 reviews
Helen Brittain (Genomics England Curator)
Comment 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.
Sarah Leigh (Genomics England Curator)
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.
BRIDGE consortium (NIHRBR-RD)
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
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Cornelia de Lange syndrome 2, OMIM:300590
- Cornelia de Lange syndrome 2, MONDO:0010370
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Monogenic short stature
- Osteogenesis imperfecta
- Clefting
- IUGR and IGF abnormalities
- Fetal anomalies
- Severe microcephaly
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for SMC1A were set to 20358602
Added New Source
Rebecca Foulger (Genomics England curator)SMC1A was added to Radial dysplasiapanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)SMC1A was created by rfoulger