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  2. Sarcoma soft tissue
  3. SMARCA4
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Sarcoma soft tissue

Gene: SMARCA4

Green List (high evidence)
SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4)
EnsemblGeneIds (GRCh38): ENSG00000127616
EnsemblGeneIds (GRCh37): ENSG00000127616
OMIM: 603254, Gene2Phenotype
SMARCA4 is in 16 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Soft-tissue sarcomas reported in condition.
Sources: Expert list, Expert Review
Created: 17 Sep 2024, 10:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; Rhabdoid tumor predisposition syndrome 2, MIM#613325

Created: 17 Sep 2024, 10:52 p.m.

Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Soft tissue sarcoma, MONDO:0018078
  • Sarcoma, MONDO:0005089
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
  • Rhabdoid tumor predisposition syndrome 2, MIM#613325
OMIM
603254
Clinvar variants
Variants in SMARCA4
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: smarca4 has been classified as Green List (High Evidence).

17 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: smarca4 has been classified as Green List (High Evidence).

17 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: SMARCA4 was added gene: SMARCA4 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCA4 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; Rhabdoid tumor predisposition syndrome 2, MIM#613325 Review for gene: SMARCA4 was set to GREEN