This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- KidGen_Cystic v38.1.0
- OMIM
- 605284
- Clinvar variants
- Variants in TSC1
- Penetrance
- None
- 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
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TSC1 was added gene: TSC1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: TSC1 was set to Unknown