Tumour predisposition - childhood onset

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

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

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

Richard Scott (Genomics England Curator)

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

History Filter Activity

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