Adult solid tumours cancer susceptibility
Gene: SMARCB1EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 14 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atypical rhabdoid tumor predisposition
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Atypical rhabdoid tumor predisposition
- OMIM
- 601607
- Clinvar variants
- Variants in SMARCB1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Fetal anomalies
- Adult solid tumours for rare disease
- Clefting
- 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
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SMARCB1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCB1 was added to Adult solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCB1 was added to Adult solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)SMARCB1 was created by ellenmcdonagh