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Rhabdoid tumour predisposition

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 15 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 4 (MIM# 614609)
Created: 8 Mar 2021, 3:27 p.m. | Last Modified: 8 Mar 2021, 3:27 p.m.
Panel Version: 1.5

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 1:03 p.m. | Last Modified: 31 Jul 2019, 1:03 p.m.
Panel Version: 0.8

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

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

Lara Hawkes (Genomics England)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review
Phenotypes
  • {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
OMIM
603254
Clinvar variants
Variants in SMARCA4
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMARCA4 were changed from to {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SMARCA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

29 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: SMARCA4 was added gene: SMARCA4 was added to GMS - Familial rhabdoid tumours. Sources: Expert Review,NHS GMS Mode of inheritance for gene: SMARCA4 was set to