Childhood solid tumours
Gene: TSC2EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 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 2
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
-
- 613254
- Tuberous sclerosis type 2
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood solid tumours
- Pneumothorax - familial
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Multiple monogenic benign skin tumours
- Skeletal dysplasia
- Intellectual disability
- Familial pulmonary fibrosis
- Early onset or syndromic epilepsy
- DDG2P
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Pigmentary skin disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Malformations of cortical development
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 TSC2. Mode of inheritance for gene TSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Tuberous sclerosis type 2 for gene: TSC2 Publications for gene TSC2 were changed from 24053982 to 23788249
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to TSC2. 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).
Added New Source
Richard Scott (Genomics England Curator)TSC2 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
Created
Richard Scott (Genomics England Curator)TSC2 was created by richardhywel