This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: TSC2
TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 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
-
- Tuberous sclerosis-2, 613254
- Lymphangioleiomyomatosis, somatic, 606690
- Tuberous Sclerosis
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- Familial pulmonary fibrosis
- Primary lymphoedema
- Cystic kidney disease
- Pneumothorax - familial
- Fetal anomalies
- Skeletal dysplasia
- Mosaic skin disorders - Deep sequencing
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Tuberous sclerosis
- Unexplained kidney failure in young people
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Malformations of cortical development
History Filter Activity
10 Dec 2015, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TSC2 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)TSC2 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)TSC2 was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TSC2 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TSC2 was created by ellenmcdonagh