Osteogenesis imperfecta
Gene: SMARCAL1
SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1)
EnsemblGeneIds (GRCh38): ENSG00000138375
EnsemblGeneIds (GRCh37): ENSG00000138375
OMIM: 606622, Gene2Phenotype
SMARCAL1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000138375
EnsemblGeneIds (GRCh37): ENSG00000138375
OMIM: 606622, Gene2Phenotype
SMARCAL1 is in 14 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
- Disproportionate Short Stature
- Tags
- OMIM
- 606622
- Clinvar variants
- Variants in SMARCAL1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Cerebral vascular malformations
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Skeletal dysplasia
- Monogenic short stature
- Osteogenesis imperfecta
- Intellectual disability
- Unexplained kidney failure in young people
- Pigmentary skin disorders
- Proteinuric renal disease
- IUGR and IGF abnormalities
- COVID-19 research
- DDG2P
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SMARCAL1.
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)SMARCAL1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory