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  3. SMARCE1
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Meningioma

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 1 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Meningioma, MONDO:0016642; Meningioma, familial, susceptibility to, MIM#607174

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Sep 2024, 1 a.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Meningioma, MONDO:0016642
  • Meningioma, familial, susceptibility to, MIM#607174
OMIM
603111
Clinvar variants
Variants in SMARCE1
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

12 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: SMARCE1 was added gene: SMARCE1 was added to Meningioma. Sources: Expert list,Expert Review Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCE1 were set to Meningioma, MONDO:0016642; Meningioma, familial, susceptibility to, MIM#607174 Review for gene: SMARCE1 was set to GREEN gene: SMARCE1 was marked as current diagnostic