Cystic kidney disease
Gene: TSC1
TSC1 (TSC complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000165699
EnsemblGeneIds (GRCh37): ENSG00000165699
OMIM: 605284, Gene2Phenotype
TSC1 is in 24 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: added publication from expert reviewCreated: 11 Jul 2018, 1:52 p.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Important differential for renal cysts.Created: 10 May 2016, 12:51 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- 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
- Pigmentary skin disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Pneumothorax - familial
- 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
- Cystic kidney disease
- Childhood solid tumours
History Filter Activity
11 Jul 2018, Gel status: 3
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: TSC1 were set to 9242607
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for TSC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Cystic kidney diseasepanel. Sources: Expert