Activity
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11 actions
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| Amelogenesis imperfecta v4.24 | CLDN16 | Achchuthan Shanmugasundram Publications for gene: CLDN16 were set to 26426912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.23 | CLDN16 | Achchuthan Shanmugasundram Phenotypes for gene: CLDN16 were changed from Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC) to familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis, MONDO:0017624; amelogenesis imperfecta, MONDO:0019507 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.9 | CLDN16 | Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: CLDN16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.9 | CLDN16 | Ida Ertmanska changed review comment from: Comment on list classification: There are 6 unrelated individuals reported in literature with biallelic variants in CLDN16 with amelogenesis imperfecta. The enamel defects are part of a syndromic presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The association is supported by a Cldn16−/− mouse model, showing enamel fractures and coronal dentin exposition on molars, caused by ameloblast defects and low extracellular pH. Based on the available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next GMS update.; to: Comment on list classification: There are 6 unrelated individuals reported in literature with biallelic variants in CLDN16 with amelogenesis imperfecta. The dental defects are part of a syndromic presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The association is supported by a Cldn16−/− mouse model, showing enamel fractures and coronal dentin exposition on molars, caused by ameloblast defects and low extracellular pH. Based on the available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.9 | CLDN16 | Ida Ertmanska changed review comment from: Comment on list classification: There are at 6 unrelated individuals reported in literature with biallelic variants in CLDN16 with amelogenesis imperfecta. The enamel defects are part of a syndromic presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The association is supported by a Cldn16−/− mouse model, showing enamel fractures and coronal dentin exposition on molars, caused by ameloblast defects and low extracellular pH. Based on the available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next GMS update.; to: Comment on list classification: There are 6 unrelated individuals reported in literature with biallelic variants in CLDN16 with amelogenesis imperfecta. The enamel defects are part of a syndromic presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The association is supported by a Cldn16−/− mouse model, showing enamel fractures and coronal dentin exposition on molars, caused by ameloblast defects and low extracellular pH. Based on the available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.9 | CLDN16 | Ida Ertmanska commented on gene: CLDN16: Comment on list classification: There are at 6 unrelated individuals reported in literature with biallelic variants in CLDN16 with amelogenesis imperfecta. The enamel defects are part of a syndromic presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis. The association is supported by a Cldn16−/− mouse model, showing enamel fractures and coronal dentin exposition on molars, caused by ameloblast defects and low extracellular pH. Based on the available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.9 | CLDN16 | Ida Ertmanska reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: None; Publications: 26426912, 32710267; Phenotypes: familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis, MONDO:0017624, amelogenesis imperfecta, MONDO:0019507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.5 | CLDN16 | Claire Smith reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: None; Publications: 32710267; Phenotypes: amelogenesis imperfecta, hyperparathyroidism, short stature, nephrocalcinosis, polyuria, polydipsia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta | CLDN16 | Sarah Leigh classified CLDN16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta | CLDN16 | Sarah Leigh marked CLDN16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta | CLDN16 | Rebecca Foulger commented on CLDN16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||