Tuberous sclerosis
Gene: TSC1
TSC1 (TSC complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #191100) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 1:44 p.m. | Last Modified: 29 Dec 2025, 1:44 p.m.
Panel Version: 1.2
TSC1 has been added to the panel for R228 Tuberous sclerosis with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 4:59 p.m. | Last Modified: 30 Jun 2023, 4:59 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Tuberous sclerosis-1, OMIM:191100
- tuberous sclerosis 1, MONDO:0008612
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- None
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Pigmentary skin disorders
- Malformations of cortical development
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Childhood solid tumours
- Cystic kidney disease
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- Ehlers Danlos syndrome with a likely monogenic cause
- Tuberous sclerosis
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, OMIM:191100; tuberous sclerosis 1, MONDO:0008612
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: TSC1 was added gene: TSC1 was added to Tuberous sclerosis. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown