Sarcoma susceptibility
Gene: SMARCB1EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 15 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 3, OMIM:614608 and Rhabdoid tumors, somatic, OMIM:609322Created: 12 Mar 2021, 11:15 a.m. | Last Modified: 12 Mar 2021, 11:15 a.m.
Panel Version: 1.55
Rebecca Foulger (Genomics England curator)
This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: SMARCB1; Phenotype submitted: Rhabdoid tu, schwannomatosis. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert list
- Phenotypes
-
- {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322
- Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
- {Schwannomatosis-1, susceptibility to}, OMIM:162091
- Schwannomatosis 1, MONDO:0024517
- OMIM
- 601607
- Clinvar variants
- Variants in SMARCB1
- Penetrance
- None
- Panels with this gene
-
- Familial rhabdoid tumours
- Intellectual disability
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Skeletal dysplasia
- Clefting
- Pigmentary skin disorders
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Embryonal tumour of possible germline origin
- Familial tumours of the nervous system
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SMARCB1 were changed from Rhabdoid tu, schwannomatosis to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; Schwannomatosis 1, MONDO:0024517
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to SMARCB1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SMARCB1 was added gene: SMARCB1 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: SMARCB1 was set to Phenotypes for gene: SMARCB1 were set to Rhabdoid tu, schwannomatosis