This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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 14 panels
EnsemblGeneIds (GRCh38): ENSG00000099956
EnsemblGeneIds (GRCh37): ENSG00000099956
OMIM: 601607, Gene2Phenotype
SMARCB1 is in 14 panels
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Details
- Sources
-
- UKGTN
- Phenotypes
-
- Neurofibromatosis, Schwannomas and Caf_ Au Lait
- {Schwannomatosis-1, susceptibility to}, 162091
- OMIM
- 601607
- Clinvar variants
- Variants in SMARCB1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Pigmentary skin disorders
- Skeletal dysplasia
- Clefting
- Childhood solid tumours cancer susceptibility
- 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
8 May 2017, Gel status: 1
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SMARCB1 were set to Neurofibromatosis, Schwannomas and Caf_ Au Lait; {Schwannomatosis-1, susceptibility to}, 162091
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SMARCB1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: UKGTN
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SMARCB1 was created by ellenmcdonagh