Renal and urinary tract disorders
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: Imported from End-stage renal disease - childhood onset panel version 0.31

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Schimke immunoosseous dysplasia 242900

OMIM

606622

Clinvar variants

Variants in SMARCAL1

Penetrance

None

Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SMARCAL1 was added gene: SMARCAL1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia

Renal and urinary tract disorders Gene: SMARCAL1