Classical tuberous sclerosis
Gene: TSC1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
191100
Publications
Comment on list classification: Confirmed DD gene for Tuberous Sclerosis Type 1, and a green review.Created: 6 May 2016, 9:54 a.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for TSC1 were set to Focal cortical dysplasia, Taylor balloon cell type, 607341Lymphangioleiomyomatosis, 606690Tuberous sclerosis-1, 191100; Tuberous Sclerosis
Publications for TSC1 were set to PMID: 17304050
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TSC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
TSC1 was added to Classical tuberous sclerosispanel. Sources: Eligibility statement prior genetic testing
TSC1 was added to Classical tuberous sclerosispanel. Sources: Eligibility Statements for GeL
TSC1 was added to Classical tuberous sclerosispanel. Sources: UKGTN
TSC1 was added to Classical tuberous sclerosispanel. Sources: Emory Genetics Laboratory
TSC1 was added to Classical tuberous sclerosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
TSC1 was added to Classical tuberous sclerosispanel. Sources: Radboud University Medical Center, Nijmegen