Primary lymphoedema
Gene: TSC1Comment 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: 1.117
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, 5:47 p.m. | Last Modified: 23 Aug 2019, 5:47 p.m.
Panel Version: 1.112
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis 606690; Tuberous sclerosis-1 191100
Phenotypes for gene: TSC1 were changed from to Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis 606690; Tuberous sclerosis-1 191100
Gene: tsc1 has been classified as Green List (High Evidence).
Gene: tsc1 has been classified as Amber List (Moderate Evidence).
gene: TSC1 was added gene: TSC1 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown