Unexplained kidney failure in young people
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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 5 Aug 2016, 11:53 a.m.

Comment on list classification: Promoted from Red to Green because this gene is Green in Version 1 of the Proteinuric renal disease gene panel
Created: 17 Jun 2016, 9:28 a.m.

Created: 17 Jun 2016, 9:28 a.m.

Panel version: 0.31

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
UKGTN
Eligibility statement prior genetic testing

Phenotypes

Schimke immunoosseous dysplasia, OMIM:242900

OMIM

606622

Clinvar variants

Variants in SMARCAL1

Penetrance

Complete

Panels with this gene

History Filter Activity

4 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900 to Schimke immunoosseous dysplasia, OMIM:242900

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900 to Schimke immunoosseous dysplasia 242900

17 Aug 2016, Gel status: 4