Proteinuric renal disease
Gene: SMARCAL1EnsemblGeneIds (GRCh38): ENSG00000138375
EnsemblGeneIds (GRCh37): ENSG00000138375
OMIM: 606622, Gene2Phenotype
SMARCAL1 is in 14 panels
3 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: SMARCAL1; Suggested initial gene rating: green; Evidence for inclusion: PMID: 11799392; Other comments: Multiple literature reports of gene in association with Schimke immunoosseous dysplasia. One positive cases in >600 Renal referralsCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immunoosseous dysplasia #242900
Publications
- PMID: 11799392
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Schimke immuno-osseous dysplasia - renal phenotype is a key partCreated: 27 May 2016, 12:51 p.m.
Maggie Williams (North Bristol NHS Trust)
Currently on UK diagnostic panel, but no positive cases over 300 tested
Listed in several reviewsCreated: 19 Oct 2015, 3:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schimke immuno-osseous dysplasia
Publications
- Pediatric Research Vol. 65, No. 5, 2009
- Santangelo et al. BMC Nephrology 2014, 15:41
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
- Eligibility statement prior genetic testing
- Phenotypes
-
- Schimke immunoosseous dysplasia, OMIM:242900
- OMIM
- 606622
- Clinvar variants
- Variants in SMARCAL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Intellectual disability
- Proteinuric renal disease
- DDG2P
- IUGR and IGF abnormalities
- Skeletal dysplasia
- COVID-19 research
- Pigmentary skin disorders
- Monogenic short stature
- Fetal anomalies
- Cerebral vascular malformations
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia #242900 to Schimke immunoosseous dysplasia, OMIM:242900
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: SMARCAL1 were changed from to Schimke immunoosseous dysplasia #242900
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: SMARCAL1 were set to
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)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SMARCAL1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCAL1 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCAL1 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing