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Skeletal dysplasia

Gene: SMARCE1

Green List (high evidence)

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

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

History Filter Activity

6 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: smarce1 has been classified as Green List (High Evidence).

6 Sep 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome 5, MIM# 616938 to Coffin-Siris syndrome 5, MIM# 616938

6 Sep 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome to Coffin-Siris syndrome 5, MIM# 616938

6 Sep 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: SMARCE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SMARCE1 were set to

6 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: smarce1 has been classified as Green List (High Evidence).

17 Dec 2019, Gel status: 0

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMARCE1 was added gene: SMARCE1 was added to Skeletal dysplasia. Sources: Mode of inheritance for gene: SMARCE1 was set to Phenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome