Childhood solid tumours
Gene: SMARCB1EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 14 panels
3 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, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atypical rhabdoid tumor predisposition
Richard Scott (Genomics England Curator)
Comment on list classification: Rhabdoid tumour predispositionCreated: 7 Mar 2016, 11:52 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Phenotypes
-
- Atypical rhabdoid tumor predisposition
- 609322
- OMIM
- 601607
- Clinvar variants
- Variants in SMARCB1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Adult solid tumours for rare disease
- Familial rhabdoid tumours
- Sarcoma susceptibility
- Familial tumours of the nervous system
- Childhood solid tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Adult solid tumours cancer susceptibility
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SMARCB1. Mode of inheritance for gene SMARCB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Atypical rhabdoid tumor predisposition for gene: SMARCB1 Publications for gene SMARCB1 were changed from 10521299 to 12016529
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to SMARCB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Richard Scott (North Thames GMC/UCL)SMARCB1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
Created
Richard Scott (North Thames GMC/UCL)SMARCB1 was created by Reviewer_03