Combined Immunodeficiency
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, 12:33 a.m. | Last Modified: 12 Aug 2021, 12:33 a.m.

Panel Version: 0.309

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, 12:33 a.m.
Last Modified: 12 Aug 2021, 12:33 a.m.
Panel version: 0.309

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

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

OMIM

606622

Clinvar variants

Variants in SMARCAL1

Penetrance

None

Publications

Panels with this gene