Rare multisystem ciliopathy 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
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Patients with tuberous sclerosis unlikely to fulfil entry criteria for this panelCreated: 25 Jan 2017, 2:05 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Ciliopathies
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Adult solid tumours cancer susceptibility
- Familial pulmonary fibrosis
- Primary lymphoedema
- Cystic kidney disease
- Pneumothorax - familial
- Mosaic skin disorders - Deep sequencing
- Fetal anomalies
- Early onset or syndromic epilepsy
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Tuberous sclerosis
- Unexplained kidney failure in young people
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- DDG2P
- Pigmentary skin disorders
- Thoracic dystrophies
- Primary ciliary disorders
- Malformations of cortical development
- Childhood solid tumours cancer susceptibility
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TSC1 was created by ellenmcdonagh
25 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TSC1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory