Activity
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14 actions
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| Amelogenesis imperfecta v3.11 | PLXNB2 | Arina Puzriakova Tag Q2_24_promote_green was removed from gene: PLXNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.11 | PLXNB2 | Arina Puzriakova reviewed gene: PLXNB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.10 | PLXNB2 |
Arina Puzriakova Source Expert Review Green was added to PLXNB2. Source NHS GMS was added to PLXNB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Amelogenesis imperfecta v3.9 | PLXNB2 | Arina Puzriakova Tag gene-checked tag was added to gene: PLXNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.6 | PLXNB2 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reported in PMID:38458752 and reviewed by Claire Smith, there are seven patients from five different families (from a total of eight patients from six families) reported with amelogenesis imperfect. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reported in PMID:38458752 and reviewed by Claire Smith, there are seven patients from five different families (from a total of eight patients from six families) reported with amelogenesis imperfecta. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.6 | PLXNB2 | Achchuthan Shanmugasundram Classified gene: PLXNB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.6 | PLXNB2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:38458752 and reviewed by Claire Smith, there are seven patients from five different families (from a total of eight patients from six families) reported with amelogenesis imperfect. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.6 | PLXNB2 | Achchuthan Shanmugasundram Gene: plxnb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.5 | PLXNB2 | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PLXNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.5 | PLXNB2 | Achchuthan Shanmugasundram Phenotypes for gene: PLXNB2 were changed from Amelogenesis imperfecta; sensorineural hearing loss to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.4 | PLXNB2 | Achchuthan Shanmugasundram Publications for gene: PLXNB2 were set to PMID: 38458752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.3 | PLXNB2 | Achchuthan Shanmugasundram reviewed gene: PLXNB2: Rating: GREEN; 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v3.3 | PLXNB2 |
Claire Smith changed review comment from: PMID: 38458752 Smith et al. (in press) report 8 patients in 6 families with rare biallelic pathogenic variants in PLXNB2 as a cause of a new autosomal recessive, phenotypically diverse syndrome with AI and sensorineural hearing loss as core features. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. Sources: Literature, Expert Review; to: PMID: 38458752 Smith et al. (in press) report 8 patients in 6 families with rare biallelic pathogenic variants in PLXNB2 as a cause of a new autosomal recessive, phenotypically diverse syndrome with AI and sensorineural hearing loss as core features. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. Sources: Literature, Expert Review Personal communication with Roland Friedel and Christian Junquiera-Alves regarding their findings in their Plxnb2-/- mouse model after publication of human patients with PLXNB2 variants: "We had made also initial observations in the PB2 KO mouse on cochlear defects and tooth malformations that looked interesting, but we did not follow up as I focused on cerebellar development. Now these findings look in retrospect much more exciting considering your data." |
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| Amelogenesis imperfecta v3.3 | PLXNB2 |
Claire Smith gene: PLXNB2 was added gene: PLXNB2 was added to Amelogenesis imperfecta. Sources: Literature,Expert Review Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXNB2 were set to PMID: 38458752 Phenotypes for gene: PLXNB2 were set to Amelogenesis imperfecta; sensorineural hearing loss Penetrance for gene: PLXNB2 were set to unknown Review for gene: PLXNB2 was set to GREEN Added comment: PMID: 38458752 Smith et al. (in press) report 8 patients in 6 families with rare biallelic pathogenic variants in PLXNB2 as a cause of a new autosomal recessive, phenotypically diverse syndrome with AI and sensorineural hearing loss as core features. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. Sources: Literature, Expert Review |
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