Rare multisystem ciliopathy disorders
Gene: TSC2
TSC2 (TSC complex subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 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, 2:06 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Ciliopathies
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood solid tumours
- Pneumothorax - familial
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- 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
- Fetal anomalies
- Pigmentary skin disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Malformations of cortical development
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)TSC2 was created by ellenmcdonagh
25 Nov 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TSC2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory