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| Primary lymphoedema v4.23 | PLXNB2 | Ida Ertmanska changed review comment from: Comment on list classification: There are 3 individuals reported in literature with biallelic PLXNB2 variants and primary lymphoedema. Hence, this gene can only be rated Amber with the current evidence.; to: Comment on list classification: There are 3 individuals from 2 families reported in literature with biallelic PLXNB2 variants and primary lymphoedema. Hence, this gene can only be rated Amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v4.23 | PLXNB2 | Ida Ertmanska Tag watchlist tag was added to gene: PLXNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v4.23 | PLXNB2 | Ida Ertmanska Phenotypes for gene: PLXNB2 were changed from amelogenesis imperfecta; hearing loss; intellectual disability; lymphoedema to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v4.22 | PLXNB2 | Ida Ertmanska Classified gene: PLXNB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v4.22 | PLXNB2 | Ida Ertmanska Added comment: Comment on list classification: There are 3 individuals reported in literature with biallelic PLXNB2 variants and primary lymphoedema. Hence, this gene can only be rated Amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v4.22 | PLXNB2 | Ida Ertmanska Gene: plxnb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v4.21 | PLXNB2 | Ida Ertmanska reviewed gene: PLXNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38458752; Phenotypes: amelogenesis imperfecta, MONDO:0019507, sensorineural hearing loss disorder, MONDO:0020678, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v4.21 | PLXNB2 |
Sahar Mansour gene: PLXNB2 was added gene: PLXNB2 was added to Primary lymphoedema. Sources: Literature Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXNB2 were set to 38458752: Phenotypes for gene: PLXNB2 were set to amelogenesis imperfecta; hearing loss; intellectual disability; lymphoedema Penetrance for gene: PLXNB2 were set to unknown Mode of pathogenicity for gene: PLXNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PLXNB2 was set to AMBER Added comment: We have seen three families with pathogenic variants in this gene and primary lymphoedema Sources: Literature |
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