Primary lymphoedemaGene: 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
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
Capillary malformation-arteriovenous malformation 1 608354
Gene: rasa1 has been classified as Green List (High Evidence).
Gene: rasa1 has been classified as Amber List (Moderate Evidence).
Publications for gene: RASA1 were set to
Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1 608354
gene: RASA1 was added gene: RASA1 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown