Skeletal dysplasia
Gene: SMC1AEnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Limb hypoplasia-reduction defects gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 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
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SMC1A; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
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
-
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Cornelia de Lange syndrome 2, OMIM:300590
- Cornelia de Lange syndrome 2, MONDO:0010370
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- Complete
- 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 to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Cornelia de Lange syndrome 2 300590 for gene: SMC1A
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to SMC1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SMC1A were set to Cornelia de Lange syndrome 2 300590
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SMC1A was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Upload gene information
Sarah Leigh (Genomics England Curator)SMC1A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)SMC1A was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)SMC1A was created by sleigh