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DDG2P

Gene: SMARCB1

Green List (high evidence)

SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1)
EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

MOP for EHMT1-like SYNDROME: all missense/in frame. Rating for EHMT1-like SYNDROME: confirmed. MOI for EHMT1-like SYNDROME: monoallelic. MOP for RHABDOID PREDISPOSITION SYNDROME 1: loss of function. Rating for RHABDOID PREDISPOSITION SYNDROME 1: confirmed. MOI for RHABDOID PREDISPOSITION SYNDROME 1: monoallelic.
Created: 21 Jan 2019, 1:25 p.m.
Comment on phenotypes: Updated phenotype based on DD-G2P update, from ?COFFIN-SIRIS SYNDROME 135900 to EHMT1-like SYNDROME.
Created: 8 Jan 2019, 8:58 a.m.
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

8 Jan 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SMARCB1 were changed from ?COFFIN-SIRIS SYNDROME 135900; RHABDOID PREDISPOSITION SYNDROME 1 609322 to EHMT1-like SYNDROME; RHABDOID PREDISPOSITION SYNDROME 1 609322

8 Jan 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes ?COFFIN-SIRIS SYNDROME 135900 for gene: SMARCB1

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: SMARCB1 was added gene: SMARCB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299 Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1 609322