Ehlers Danlos syndrome with a likely monogenic cause
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
Louise Daugherty (Genomics England Curator)
Comment on list classification: from expert review Demoted to Grey status, this gene is not relevant to EDS or connective tissue disorders but associated to skeletal dysplasia.Created: 28 Apr 2017, 12:37 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- cutis laxa (Conditions which present with lung cystic lesions include alpha-1-antitrypsin deficiency, Birt-Hogg-Dube syndrome, tuberous sclerosis, complex-associated lymphangioleiomyomatosis (LAM), cutis laxa, and emphysema)
- Tags
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- Complete
- Panels with this gene
-
- Unexplained kidney failure in young people
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Childhood solid tumours
- Pigmentary skin disorders
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood solid tumours cancer susceptibility
- Structural eye disease
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Familial pulmonary fibrosis
- Mosaic skin disorders - deep sequencing
- Ehlers Danlos syndrome with a likely monogenic cause
- DDG2P
- Pneumothorax - familial
- Skeletal dysplasia
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Fetal anomalies
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TSC2.
25 Jul 2017, Gel status: 0
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
28 Apr 2017, Gel status: 0
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been removed from the panel.
24 Jan 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TSC2 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory
24 Jan 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TSC2 was created by ellenmcdonagh