Lymphoedema_syndromic
Gene: TSC1
TSC1 (TSC complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 20 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Tuberous sclerosis-1 191100
- Lymphangioleiomyomatosis 606690
- Focal cortical dysplasia, type II, somatic 607341
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- 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
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sue White (Victorian Clinical Genetics Services)gene: TSC1 was added gene: TSC1 was added to Lymphoedema_syndromic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1 191100; Lymphangioleiomyomatosis 606690; Focal cortical dysplasia, type II, somatic 607341