Skeletal dysplasia
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

Danielle Ariti (University of Melbourne)

Green List (high evidence)

Well-established gene-disease association; over 40 patients with biallelic mutations in SMARCAL1 have been reported; Zebrafish and mouse models that recapitulates phenotype have been reported.

Homozygous and compound heterozygous variants reported include nonsense, frameshift, splice and missense variants.

Primary features include spondyloepiphyseal dysplasia, renal dysfunction, lymphocytopaenia and/or T-cell immunodeficiency.
Created: 12 Aug 2021, 5:23 a.m. | Last Modified: 12 Aug 2021, 5:23 a.m.

Panel Version: 0.8767

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schimke immune-osseous dysplasia MIM# 242900; T cell deficiency; Short stature; spondyloepiphyseal dysplasia; renal dysfunction; lymphocytopaenia; nephropathy; bacterial/viral/fungal infections; may present as SCID; bone marrow failure

Publications

Created: 12 Aug 2021, 5:23 a.m.
Last Modified: 12 Aug 2021, 5:23 a.m.
Panel version: Imported from Mendeliome panel version 0.8767

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Schimke immunoosseous dysplasia 242900
Schimke immunoosseous dysplasia 242900

OMIM

606622

Clinvar variants

Variants in SMARCAL1

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMARCAL1 was added gene: SMARCAL1 was added to Skeletal dysplasia. Sources: NHS GMS,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 242900; Schimke immunoosseous dysplasia 242900

Skeletal dysplasia Gene: SMARCAL1