Ehlers Danlos syndrome with a likely monogenic cause
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
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, 12:36 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Tags
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- Complete
- Panels with this gene
-
- Pigmentary skin disorders
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Familial pulmonary fibrosis
- Cystic kidney disease
- Mosaic skin disorders - deep sequencing
- Ehlers Danlos syndrome with a likely monogenic cause
- Intellectual disability
- Childhood solid tumours
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Unexplained kidney failure in young people
- DDG2P
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Tuberous sclerosis
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
- 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: TSC1.
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)TSC1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory
24 Jan 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TSC1 was created by ellenmcdonagh