Primary lymphoedema
Gene: TSC2EnsemblGeneIds (GRCh38): ENSG00000103197
EnsemblGeneIds (GRCh37): ENSG00000103197
OMIM: 191092, Gene2Phenotype
TSC2 is in 25 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from amber to green. After discussion with the Clinical Team (Genomics England), it was decided that this gene should be promoted to Green status based on the expert opinion of Professor Sahar Mansour (St George's Hospital, London).Created: 4 Sep 2019, 1:57 p.m. | Last Modified: 4 Sep 2019, 1:57 p.m.
Panel Version: 1.116
Sarah Leigh (Genomics England Curator)
Comment on list classification: Based on recommendation from Prof Sahar Mansour (St George's Hospital, London) lymphoedema has been reported with tuberous sclerosis once or twice in the literature and we have a couple of patients but it is rare and there are usually other clues to the diagnosis.Created: 23 Aug 2019, 5:48 p.m. | Last Modified: 23 Aug 2019, 5:48 p.m.
Panel Version: 1.113
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis, somatic 606690; Tuberous sclerosis-2 613254
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- ?Focal cortical dysplasia, type II, somatic 607341
- Lymphangioleiomyomatosis, somatic 606690
- Tuberous sclerosis-2 613254
- OMIM
- 191092
- Clinvar variants
- Variants in TSC2
- Penetrance
- None
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Familial pulmonary fibrosis
- Structural eye disease
- Skeletal dysplasia
- Malformations of cortical development
- Ehlers Danlos syndrome with a likely monogenic cause
- Early onset or syndromic epilepsy
- Childhood solid tumours
- Pneumothorax - familial
- Classical tuberous sclerosis
- Adult solid tumours for rare disease
- Unexplained kidney failure in young people
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- DDG2P
- Tuberous sclerosis
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
- Cystic kidney disease
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TSC2 were changed from to ?Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis, somatic 606690; Tuberous sclerosis-2 613254
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tsc2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: tsc2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: TSC2 was added gene: TSC2 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown