Primary lymphoedema

Gene: RASA1

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, 1:56 p.m. | Last Modified: 4 Sep 2019, 1:56 p.m.

Panel Version: 1.114

Red List (low evidence)

Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) "Lymphatic malformations have been reported in several individuals [PMIDs 26969842, 23650393, 22342634], including one individual with RASA1-related Parkes Weber syndrome. Lymphangiography and near-infrared fluorescence lymphatic imaging showed abnormally dilated collecting lymphatics with sluggish flow in the unaffected limb, and tortuous lymphatics of the affected limb with lymphocele-like vesicles on the groin [PMID 23650393]. Whether these lymphatic abnormalities are progressive is not yet known."

Created: 23 Aug 2019, 5:19 p.m. | Last Modified: 23 Aug 2019, 5:23 p.m.

Panel Version: 1.108

Associated with Capillary malformation-arteriovenous malformation 1 608354.

Created: 24 Jul 2019, 10:46 a.m. | Last Modified: 24 Jul 2019, 10:46 a.m.

Panel Version: 1.88

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Capillary malformation-arteriovenous malformation 1 608354