Growth failure

Gene: SMARCAL1

Green List (high evidence)

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

Reported homozygous and compound heterozygous variants include nonsense, frameshift, splice and missense.

This disorder combines abnormality of the immune and skeletal systems.
Primary features include growth retardation (IUGR in 50%), renal failure, cerebral infarcts, skin pigmentation and CID (lymphocytopaenia, recurrent infections and/or T-cell immunodeficiency) beginning in childhood.

Created: 2 Sep 2021, 12:07 a.m. | Last Modified: 2 Sep 2021, 12:07 a.m.

Panel Version: 0.381

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 20301550
• 17089404
• 20036229