Tumour predisposition - adult onset
Gene: SMARCB1EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- (originally on Familial schwannomatosis gene panel)
- Schwannomatosis
- Atypical rhabdoid tumor predisposition
- OMIM
- 601607
- Clinvar variants
- Variants in SMARCB1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
- Intellectual disability
- Embryonal tumour of possible germline origin
- Sarcoma susceptibility
- Skeletal dysplasia
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Adult solid tumours cancer susceptibility
- DDG2P
- Childhood solid tumours
- Fetal anomalies
- Familial tumours of the nervous system
- Clefting
History Filter Activity
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Set Phenotypes, Set publications
Rebecca Foulger (Genomics England curator)Added phenotypes (originally on Familial schwannomatosis gene panel); Schwannomatosis for gene: SMARCB1 Publications for gene SMARCB1 were changed from to 18285426
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SMARCB1 was added gene: SMARCB1 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Green Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SMARCB1 were set to Atypical rhabdoid tumor predisposition