Primary lymphoedema

Gene: TSC2

Green List (high evidence)

TSC2 (TSC complex subunit 2)
EnsemblGeneIds (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)

Red List (low evidence)

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

History Filter Activity

4 Sep 2019, Gel status: 3

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

4 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tsc2 has been classified as Green List (High Evidence).

23 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tsc2 has been classified as Amber List (Moderate Evidence).

23 Jul 2019, Gel status: 1

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