This Panel is marked as Retired
Multiple Tumours
Gene: SMARCB1
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
EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 14 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Rhabdoid Tumor Predisposition Syndrome
- Rhabdoid Tumor Predisposition Syndrome 1
- Rhabdoid Predisposition Syndrome
- Rhabdoid tumor (renal, extra-renal)
- Choroid plexus carcinoma
- Medulloblastoma
- Central primitive neuroectodermal tumor
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 601607
- Clinvar variants
- Variants in SMARCB1
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Adult solid tumours for rare disease
- Familial rhabdoid tumours
- Sarcoma susceptibility
- Familial tumours of the nervous system
- Pigmentary skin disorders
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Adult solid tumours cancer susceptibility
- Intellectual disability
- Clefting
- Skeletal dysplasia
- DDG2P
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SMARCB1 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCB1 was added to Multiple Tumourspanel. Source: TruSight Cancer Panel (Illumina)
22 Jul 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)SMARCB1 was added to Multiple Tumourspanel. Sources: UKGTN
22 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SMARCB1 was added to Multiple Tumourspanel. Sources: Illumina TruGenome Clinical Sequencing Services