Adult solid tumours for rare disease

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

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor.
Created: 5 Jul 2017, 12:19 p.m.

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

Phenotypes
predisposition to small cell ca ; Ovary with hypercalcemia

History Filter Activity

5 Mar 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

5th March 2018 - promoted to version 1 after expert review and internal clinical review.

19 Dec 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SMARCA4 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list

19 Dec 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

SMARCA4 was created by Ellen McDonagh