Incidentalome
Gene: TSC2
TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 20 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis-2, MIM# 613254
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- None
- Panels with this gene
-
- Additional findings_Adult
- Kidney Cancer
- Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
- Lymphoedema_syndromic
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Pneumothorax
- Facial papules
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Renal Macrocystic Disease
- Mosaic skin disorders
- Cerebral Palsy
- Autism
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TSC2 was added gene: TSC2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TSC2 was set to Unknown