Childhood solid tumours cancer susceptibility
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
Clare Turnbull (Queen Mary University London)
Tumour suppressor.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tuberous sclerosis type 1
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Tuberous sclerosis type 1
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Pigmentary skin disorders
- Malformations of cortical development
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Cystic kidney disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
History Filter Activity
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor.
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Childhood solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TSC1 was created by ellenmcdonagh
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Childhood solid tumourspanel. Sources: Expert list