Pigmentary skin disorders
Gene: TSC2EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
TUBEROUS SCLEROSIS 2; TSC2
Publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Variants in this gene are a cause of Tuberous Sclerosis which is characterised by pigmentary abnormalities, classically hypomelanotic macules and confetti skin lesions, among other features.Created: 17 Apr 2019, 6:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tuberous sclerosis-2
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: TSC2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Tuberous sclerosis
- TUBEROUS SCLEROSIS 2
- TSC2
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial pulmonary fibrosis
- DDG2P
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Fetal anomalies
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Malformations of cortical development
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Pigmentary skin disorders
- Cystic kidney disease
- Childhood solid tumours
- Pneumothorax - familial
- Intellectual disability
- Tuberous sclerosis
- Ehlers Danlos syndrome with a likely monogenic cause
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Skeletal dysplasia
- Primary lymphoedema
- Multiple monogenic benign skin tumours
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes TUBEROUS SCLEROSIS 2; TSC2 for gene: TSC2 Publications for gene TSC2 were changed from to 12111193
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to TSC2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TSC2 was added gene: TSC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC2 were set to Tuberous sclerosis