This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Tuberous sclerosis 1Renal cell cancer, angiomyolipoma
- Subependymal giant cell astrocytoma
- Rhabdomyoma (cardiac)
- Hamartoma (retinal, gastrointestinal tract)
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Familial pulmonary fibrosis
- Cystic kidney disease
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Pigmentary skin disorders
- 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
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TSC1 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)