| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary lymphoedema v1.114 | RASA1 | Ivone Leong Classified gene: RASA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.114 | RASA1 | 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 v1.114 | RASA1 | Ivone Leong Gene: rasa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.108 | RASA1 | Sarah Leigh changed review comment from: Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) "Lymphatic malformations have been reported in several individuals [de Wijn et al 2012, Burrows et al 2013, Macmurdo et al 2016], 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 [Burrows et al 2013]. Whether these lymphatic abnormalities are progressive is not yet known."; to: 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." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.108 | RASA1 | Sarah Leigh Classified gene: RASA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.108 | RASA1 | Sarah Leigh Added comment: Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) "Lymphatic malformations have been reported in several individuals [de Wijn et al 2012, Burrows et al 2013, Macmurdo et al 2016], 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 [Burrows et al 2013]. Whether these lymphatic abnormalities are progressive is not yet known." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.108 | RASA1 | Sarah Leigh Gene: rasa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.107 | RASA1 | Sarah Leigh Publications for gene: RASA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.106 | RASA1 | Sarah Leigh Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1 608354 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | RASA1 | Sarah Leigh reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.83 | RASA1 |
Sarah Leigh 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 |
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