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DDG2P

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 16 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease RHABDOID TUMOR PREDISPOSITION SYNDROME 2, OMIM:613325 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID:20137775). The DDG2P confidence category for the disease COFFIN SIRIS, OMIM:135900 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
COFFIN SIRIS, OMIM:135900; RHABDOID TUMOR PREDISPOSITION SYNDROME 2, OMIM:613325

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders).
Created: 19 Nov 2018, 11:30 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325 for gene: SMARCA4 Publications for gene SMARCA4 were changed from to 20137775

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SMARCA4 was added gene: SMARCA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS 135900