Skeletal dysplasia
Gene: SMARCE1

SMARCE1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1)
EnsemblGeneIds (GRCh38): ENSG00000073584
EnsemblGeneIds (GRCh37): ENSG00000073584
OMIM: 603111, Gene2Phenotype
SMARCE1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly.

Accounts for ~2% of Coffin Siris syndrome.

Germline LoF variants also linked to familial meningioma.
Created: 27 Mar 2022, 7:10 a.m. | Last Modified: 27 Mar 2022, 7:22 a.m.

Panel Version: 0.12035

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 5, MIM# 616938; {Meningioma, familial, susceptibility to} 607174

Publications

Created: 27 Mar 2022, 7:10 a.m.
Last Modified: 27 Mar 2022, 7:22 a.m.
Panel version: Imported from Mendeliome panel version 0.12035

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Coffin-Siris syndrome 5, MIM# 616938

OMIM

603111

Clinvar variants

Variants in SMARCE1

Penetrance

None

Publications

Panels with this gene