Groopman et al 2019 - Genes with diagnostic variants
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

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SMARCAL1; Inheritance: AR:Clinical diagnosis: Glomerulopathy; Genetic diagnosis: Schimke immunoosseous dysplasia; OMIM phenotype MIM no.: 242900; Number of cases: 1 (compound heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

MIM 242900
Schimke immunoosseous dysplasia
Glomerulopathy

OMIM

606622

Clinvar variants

Variants in SMARCAL1

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to SMARCAL1.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SMARCAL1 was added gene: SMARCAL1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SMARCAL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SMARCAL1 were set to MIM 242900; Schimke immunoosseous dysplasia; Glomerulopathy

Groopman et al 2019 - Genes with diagnostic variants Gene: SMARCAL1