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Primary lymphoedema v1.119 TSC2 Ivone Leong Phenotypes for gene: TSC2 were changed from to ?Focal cortical dysplasia, type II, somatic 607341; Lymphangioleiomyomatosis, somatic 606690; Tuberous sclerosis-2 613254
Primary lymphoedema v1.116 TSC2 Ivone Leong Classified gene: TSC2 as Green List (high evidence)
Primary lymphoedema v1.116 TSC2 Ivone Leong Added comment: 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).
Primary lymphoedema v1.116 TSC2 Ivone Leong Gene: tsc2 has been classified as Green List (High Evidence).
Primary lymphoedema v1.113 TSC2 Sarah Leigh Classified gene: TSC2 as Amber List (moderate evidence)
Primary lymphoedema v1.113 TSC2 Sarah Leigh Added comment: 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.
Primary lymphoedema v1.113 TSC2 Sarah Leigh Gene: tsc2 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v1.88 TSC2 Sarah Leigh reviewed gene: TSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis, somatic 606690, Tuberous sclerosis-2 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.83 TSC2 Sarah Leigh 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