Limb disorders
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.
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
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 6:59 a.m.
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 list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Cornelia de Lange syndrome 2, OMIM:300590
- Cornelia de Lange syndrome 2, MONDO:0010370
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Clefting
- Monogenic short stature
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Severe microcephaly
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Radial dysplasia
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 3
Set Phenotypes, Set publications
Sarah Leigh (Genomics England Curator)Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A Publications for gene SMC1A were changed from to 20358602
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)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)
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to SMC1A. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)SMC1A was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)SMC1A was created by Ellen McDonagh