Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SMC1AEnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
An X-linked dominant variant (c.3581A>G; p.Tyr1194Cys) was identified in an individual with Cornelia de Lange syndrome (characterised by dysmorphic facial features, growth, and developmental delay and syndromic craniosynostosis). Their mother was mosaic for the variant (PMID:29037998).
Sources: LiteratureCreated: 23 Jul 2023, 7:11 p.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, OMIM:300590; craniosynostosis, MONDO:0015469
Publications
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
-
- Literature
- Phenotypes
-
- Cornelia de Lange syndrome 2, OMIM:300590
- craniosynostosis, MONDO:0015469
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: SMC1A was added gene: SMC1A was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode 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) Publications for gene: SMC1A were set to 29037998; 36980886 Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, OMIM:300590; craniosynostosis, MONDO:0015469 Review for gene: SMC1A was set to RED