Groopman et al 2019 - Genes with diagnostic variants


Red List (low evidence)

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 17 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

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