This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: TSC1
TSC1 (TSC complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Focal cortical dysplasia, Taylor balloon cell type, 607341
- Lymphangioleiomyomatosis, 606690
- Tuberous sclerosis-1, 191100
- Tuberous Sclerosis
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Panels with this gene
-
- Familial pulmonary fibrosis
- DDG2P
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Malformations of cortical development
- Multiple monogenic benign skin tumours
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Pigmentary skin disorders
- Cystic kidney disease
- Childhood solid tumours
- Skeletal dysplasia
- Pneumothorax - familial
- Intellectual disability
- Tuberous sclerosis
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
10 Dec 2015, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Undiagnosed neurocutaneous disorderspanel. Source: Emory Genetics Laboratory
10 Dec 2015, Gel status: 2
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TSC1 was created by ellenmcdonagh