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| Primary lymphoedema v1.73 | RIT1 | Sarah Leigh Publications for gene: RIT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.72 | RIT1 | Sarah Leigh Classified gene: RIT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.72 | RIT1 | Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.72 | RIT1 | Sarah Leigh Gene: rit1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.45 | RIT1 | Sahar Mansour reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23791108, 25124994, 24939608; Phenotypes: Noonan syndrome 8 615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.44 | RIT1 |
Sarah Leigh gene: RIT1 was added gene: RIT1 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355 Mode of pathogenicity for gene: RIT1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments |
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