Osteogenesis imperfecta
Gene: SMC1A
SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:05 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Skeletal dysplasia
- Clefting
- Severe microcephaly
- Monogenic short stature
- Intellectual disability
- Fetal anomalies
- DDG2P
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Limb disorders
- Radial dysplasia
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SMC1A.
16 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SMC1A was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory