Primary ciliary disorders
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
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.Created: 8 Dec 2015, 5:33 p.m.
Phenotypes
ciliopathies
Hannah Mitchison (UCL and GOSH)
This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- DDG2P
- Familial pulmonary fibrosis
- Pigmentary skin disorders
- Malformations of cortical development
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Childhood solid tumours
- Cystic kidney disease
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Tuberous sclerosis
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
16 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory