Skeletal dysplasia
Gene: SMARCAL1EnsemblGeneIds (GRCh38): ENSG00000138375
EnsemblGeneIds (GRCh37): ENSG00000138375
OMIM: 606622, Gene2Phenotype
SMARCAL1 is in 14 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
spondylo-epi-(meta)-physeal dysplasias gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia 242900
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: SMARCAL1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:09 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia 242900
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Schimke immunoosseous dysplasia, OMIM:242900
- OMIM
- 606622
- Clinvar variants
- Variants in SMARCAL1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Unexplained kidney failure in young people
- DDG2P
- IUGR and IGF abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Proteinuric renal disease
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Osteogenesis imperfecta
- Cerebral vascular malformations
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900; Schimke immunoosseous dysplasia 242900 to Schimke immunoosseous dysplasia, OMIM:242900
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Schimke immunoosseous dysplasia 242900 for gene: SMARCAL1
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to SMARCAL1. 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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SMARCAL1 were set to Schimke immunoosseous dysplasia 242900
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for SMARCAL1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Sarah Leigh (Genomics England Curator)SMARCAL1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)SMARCAL1 was added to Unexplained skeletal dysplasiapanel. Sources: