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  2. Childhood solid tumours
  3. SMARCA4
STRs in panel
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Childhood solid 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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Created: 2 Aug 2019, 11:03 a.m.
Last Modified: 2 Aug 2019, 11:03 a.m.
Panel version: 1.27

Lara Hawkes (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
predisposition to small cell ca Ovary with hypercalcemia

Created: 30 Jan 2019, 11:20 a.m.

Panel version: 1.23

Richard Scott (Genomics England Curator)

Comment on list classification: Rhabdoid tumour predisposition
Created: 7 Mar 2016, 11:52 p.m.
Created: 7 Mar 2016, 11:52 p.m.

Panel version: 0.85

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
Phenotypes
  • {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325
  • Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
OMIM
603254
Clinvar variants
Variants in SMARCA4
Penetrance
Complete
Publications
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 613325; predisposition to small cell ca; Ovary with hypercalcemia to {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224

2 Aug 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SMARCA4. Mode of inheritance for gene SMARCA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes predisposition to small cell ca; Ovary with hypercalcemia for gene: SMARCA4 Publications for gene SMARCA4 were changed from 20137775 to 24658002

30 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to SMARCA4. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2016, Gel status: 0

Added New Source

Richard Scott (North Thames GMC/UCL)

SMARCA4 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list

7 Mar 2016, Gel status: 0

Created

Richard Scott (North Thames GMC/UCL)

SMARCA4 was created by Reviewer_03