Mosaic brain disorders - deep sequencing
Gene: TSC1EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Focal cortical dysplasia, type II, somatic, OMIM:607341; Tuberous sclerosis-1, OMIM:191100
Publications
- PMID: 26540169
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:35 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: AD, mosaic. Publications: Tyburczy et al 2015 Plos Genetics. Mechanism: LOF (MTOR pathway). Penetrance: variable penetrance.Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2
Phenotypes
Tuberous sclerosis
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Tuberous sclerosis-1, OMIM:191100
- Focal cortical dysplasia, type II, somatic, OMIM:607341
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Malformations of cortical development
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood solid tumours
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Unexplained kidney failure in young people
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Early onset or syndromic epilepsy
- Mosaic skin disorders - deep sequencing
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to TSC1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TSC1 were changed from Tuberous sclerosis-1, OMIM:191100 to Tuberous sclerosis-1, OMIM:191100; Focal cortical dysplasia, type II, somatic, OMIM:607341
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TSC1 were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tsc1 has been classified as Green List (High Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis-1, OMIM:191100
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TSC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: TSC1 was added gene: TSC1 was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: TSC1 was set to