Familial rhabdoid 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 15 panels
EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 15 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Rhabdoid tumors, somatic (MIM# 609322); {Schwannomatosis-1, susceptibility to} (MIM# 162091); Coffin-Siris syndrome 3 (MIM# 614608)Created: 8 Mar 2021, 3:40 p.m. | Last Modified: 8 Mar 2021, 3:40 p.m.
Panel Version: 1.6
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 1:03 p.m. | Last Modified: 31 Jul 2019, 1:03 p.m.
Panel Version: 0.8
Rachel Robinson (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Expert Review
- Phenotypes
-
- {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
- Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
- OMIM
- 601607
- Clinvar variants
- Variants in SMARCB1
- Penetrance
- None
- Panels with this gene
-
- Familial rhabdoid tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Intellectual disability
- Clefting
- Childhood solid tumours
- Adult solid tumours for rare disease
- Fetal anomalies
- Sarcoma susceptibility
- Embryonal tumour of possible germline origin
- Familial tumours of the nervous system
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Skeletal dysplasia
- DDG2P
- Childhood solid tumours cancer susceptibility
History Filter Activity
8 Mar 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SMARCB1 were changed from to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
30 Jan 2019, Gel status: 3
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
29 Jan 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: smarcb1 has been classified as Green List (High Evidence).
29 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: SMARCB1 was added gene: SMARCB1 was added to GMS - Familial rhabdoid tumours. Sources: Expert Review,NHS GMS Mode of inheritance for gene: SMARCB1 was set to