This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
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
1 review
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: TSC2; Inheritance: AD; Clinical diagnosis: Other; Genetic diagnosis: Tuberous sclerosis 2; OMIM phenotype MIM No.: 613254; Number of cases: 1Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert review red
- Literature
- Phenotypes
-
- Other
- MIM 613254
- Tuberous sclerosis 2
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Familial pulmonary fibrosis
- DDG2P
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Ehlers Danlos syndrome with a likely monogenic cause
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Malformations of cortical development
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Pigmentary skin disorders
- Cystic kidney disease
- Childhood solid tumours
- Pneumothorax - familial
- Intellectual disability
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
History Filter Activity
2 Jul 2019, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to TSC2.
2 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TSC2 was added gene: TSC2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSC2 were set to Other; MIM 613254; Tuberous sclerosis 2