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  2. BRIDGE_SPEED_NEURO_20170705
  3. SMARCB1
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BRIDGE_SPEED_NEURO_20170705

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 14 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 10:47 a.m.

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

Publications

Created: 2 Aug 2017, 7:18 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 2:48 p.m.
Created: 31 Jul 2017, 2:48 p.m.

Panel version: 0.161

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Rhabdoid tumors, somatic, 609322
  • {Rhabdoid predisposition syndrome 1}, 609322
  • Mental retardation, autosomal dominant 15, 614608
  • {Schwannomatosis-1, susceptibility to}, 162091
OMIM
601607
Clinvar variants
Variants in SMARCB1
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SMARCB1 were set to Rhabdoid tumors, somatic, 609322; {Rhabdoid predisposition syndrome 1}, 609322; Mental retardation, autosomal dominant 15, 614608; {Schwannomatosis-1, susceptibility to}, 162091

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SMARCB1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SMARCB1 was created by LouiseD