| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary lymphoedema v1.121 | SHANK3 | Ivone Leong Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome 606232 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.96 | SHANK3 | Sarah Leigh Classified gene: SHANK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.96 | SHANK3 | Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London), together with association with relevant phenotype and sufficient variants reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.96 | SHANK3 | Sarah Leigh Gene: shank3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.88 | SHANK3 | Sarah Leigh reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phelan-McDermid syndrome 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.83 | SHANK3 |
Sarah Leigh gene: SHANK3 was added gene: SHANK3 was added to Primary lymphoedema. Sources: Expert list Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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