Familial Tumours Syndromes of the central & peripheral Nervous system

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 6 panels

2 reviews

D Gareth Evans (UoM)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on list classification: Associated with multiple spinal meningiomas in 4 families.
Created: 15 Feb 2016, 12:52 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • familial spinal and cranial meningiomas
OMIM
603111
Clinvar variants
Variants in SMARCE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Sep 2015, Gel status: 0

Added New Source

Emma Woodward (Manchester Centre for Genomic Medicine)

SMARCE1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Literature