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Sarcoma susceptibility

Gene: SMARCA4

Amber List (moderate 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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: SMARCA4; Phenotype submitted: undifferentiated uterine sarcoma; Evidence for inclusion: PMID:31190001. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2

Publications

Created: 23 Jul 2019, 3:16 p.m.
Last Modified: 23 Jul 2019, 3:16 p.m.
Panel version: 0.2

History Filter Activity

12 Mar 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: SMARCA4 was changed from to BIALLELIC, autosomal or pseudoautosomal

12 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMARCA4 were changed from undifferentiated uterine sarcoma to Uterine corpus sarcoma, MONDO:0005210

1 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SMARCA4.

23 Jul 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: SMARCA4 was added gene: SMARCA4 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: SMARCA4 was set to Publications for gene: SMARCA4 were set to 31190001 Phenotypes for gene: SMARCA4 were set to undifferentiated uterine sarcoma