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  3. SMARCA4
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Familial rhabdoid tumours

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 14 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
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
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

Created: 29 Jan 2019, 4:20 p.m.

Panel version: 0.2

Lara Hawkes (Genomics England)

Green List (high evidence)

Created: 29 Jan 2019, 4:20 p.m.

Panel version: 0.2

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