Unexplained kidney failure in young people
Gene: TSC1EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: One variant reported in Lymphangioleiomyomatosis 606690Created: 5 Aug 2016, 12:24 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least six variants reported in Tuberous sclerosis-1 191100Created: 5 Aug 2016, 12:23 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Expert
- Phenotypes
-
- Tuberous sclerosis-1 191100
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Pigmentary skin disorders
- Malformations of cortical development
- Childhood solid tumours
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Mosaic skin disorders - deep sequencing
- Cystic kidney disease
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TSC1 were changed from Tuberous sclerosis-1 191100 to Tuberous sclerosis-1 191100
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TSC1 were set to Tuberous sclerosis-1 191100
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)TSC1 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TSC1 were set to Tuberous sclerosis-1 191100
Added New Source
Sarah Leigh (Genomics England Curator)TSC1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)TSC1 was created by sleigh