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  2. Tumour predisposition - adult onset
  3. SMARCE1
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Tumour predisposition - adult onset

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • familial spinal and cranial meningiomas
OMIM
603111
Clinvar variants
Variants in SMARCE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.

17 Dec 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SMARCE1 was added gene: SMARCE1 was added to Tumour predisposition - adult onset. Sources: Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Green Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCE1 were set to 23377182 Phenotypes for gene: SMARCE1 were set to familial spinal and cranial meningiomas