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  3. SMARCB1
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Schwannoma

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 15 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Schwannomas reported in condition.
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 1:30 a.m. | Last Modified: 12 Sep 2024, 2:59 a.m.
Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Schwannoma, MONDO:0002546; Schwannomatosis 1, MONDO:0024517; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; Rhabdoid tumor predisposition syndrome 1, MIM#609322; Schwannomatosis, susceptibility to, 1, MIM#162091

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

Created: 12 Sep 2024, 1:30 a.m.
Last Modified: 12 Sep 2024, 2:59 a.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Schwannoma, MONDO:0002546
  • Schwannomatosis 1, MONDO:0024517
  • Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
  • Rhabdoid tumor predisposition syndrome 1, MIM#609322
  • Schwannomatosis, susceptibility to, 1, MIM#162091
OMIM
601607
Clinvar variants
Variants in SMARCB1
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: smarcb1 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: smarcb1 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: SMARCB1 was added gene: SMARCB1 was added to Schwannoma. Sources: Expert list,Expert Review Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCB1 were set to Schwannoma, MONDO:0002546; Schwannomatosis 1, MONDO:0024517; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; Rhabdoid tumor predisposition syndrome 1, MIM#609322; Schwannomatosis, susceptibility to, 1, MIM#162091 Review for gene: SMARCB1 was set to GREEN gene: SMARCB1 was marked as current diagnostic