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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

Dominant-negative and gain-of-function variants are associated with AD Coffin-Siris syndrome; whereas LOF AD variants are associated with Rhabdoid tumour predisposition syndrome (ClinGen).
Created: 27 Jun 2023, 9:12 a.m. | Last Modified: 27 Jun 2023, 9:12 a.m.
Panel Version: 0.145
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:11100
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.145

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SMARCA4. Added phenotypes Rhabdoid tumour predisposition syndrome for gene: SMARCA4 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SMARCA4. Added phenotypes Rhabdoid tumour predisposition syndrome for gene: SMARCA4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: SMARCA4 was added gene: SMARCA4 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA4 were set to Rhabdoid tumour predisposition syndrome