Monogenic short stature
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- OMIM
- 606622
- Clinvar variants
- Variants in SMARCAL1
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Unexplained kidney failure in young people
- DDG2P
- IUGR and IGF abnormalities
- Intellectual disability
- Fetal anomalies
- Proteinuric renal disease
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Skeletal dysplasia
- Osteogenesis imperfecta
- Cerebral vascular malformations
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)gene: SMARCAL1 was added gene: SMARCAL1 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: SMARCAL1 was set to Unknown