This Panel is marked as Retired
Familial Focal Epilepsies
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Focal Cortical Dysplasia of Taylor
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Pigmentary skin disorders
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Familial pulmonary fibrosis
- Cystic kidney disease
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood solid tumours
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Skeletal dysplasia
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- DDG2P
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
History Filter Activity
8 Feb 2016, Gel status: 1
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)TSC1 was added to Familial focal epilepsypanel. Sources: Illumina TruGenome Clinical Sequencing Services