Familial Tumours Syndromes of the central & peripheral Nervous system

Gene: SMARCB1

Green List (high evidence)

SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1)
EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 12 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Germline predisposition to AD schwannomatosis
Created: 15 Feb 2016, 12:44 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Schwannomatosis
  • (originally on Familial schwannomatosis gene panel)
OMIM
601607
Clinvar variants
Variants in SMARCB1
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

Set publications

Ellen Thomas (Genomics England Curator)

Publications for SMARCB1 were set to PubMed: 18285426

15 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for SMARCB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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).

27 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SMARCB1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: UKGTN

27 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMARCB1 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN