Childhood solid tumours
Gene: TSC1EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tuberous sclerosis type 1
Richard Scott (Genomics England Curator)
Comment on list classification: SEGAs occur in substantial proportion in childhoodCreated: 8 Mar 2016, 12:23 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Expert list
- Phenotypes
-
- 191100
- 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
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Pigmentary skin disorders
- Intellectual disability
- Fetal anomalies
- DDG2P
- 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
- Early onset or syndromic epilepsy
- Cystic kidney disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TSC1. Mode of inheritance for gene TSC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Tuberous sclerosis type 1 for gene: TSC1 Publications for gene TSC1 were changed from 24053982 to 23788249
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to TSC1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Richard Scott (Genomics England Curator)TSC1 was created by richardhywel
Added New Source
Richard Scott (Genomics England Curator)TSC1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list