Activity
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| Amelogenesis imperfecta v4.30 | ALPL | Ida Ertmanska changed review comment from: Comment on list classification: There are numerous individuals reported in literature with both mono- and bi- allelic ALPL variants, with hypophosphatasia. Tooth loss and other dental signs are very common symptoms, particularly in paediatric-onset cases. Odontohypophosphatasia cases present with an isolated dental phenotype. Based on available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next update.; to: Comment on list classification: There are numerous individuals reported in literature with both mono- and bi- allelic ALPL variants, diagnosed with hypophosphatasia. Tooth loss and other dental signs are very common symptoms, particularly in paediatric-onset cases. Odontohypophosphatasia cases present with an isolated dental phenotype. Based on available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.30 | ALPL | Ida Ertmanska Classified gene: ALPL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.30 | ALPL | Ida Ertmanska Added comment: Comment on list classification: There are numerous individuals reported in literature with both mono- and bi- allelic ALPL variants, with hypophosphatasia. Tooth loss and other dental signs are very common symptoms, particularly in paediatric-onset cases. Odontohypophosphatasia cases present with an isolated dental phenotype. Based on available evidence, this gene should be promoted to Green for Amelogenesis imperfecta at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.30 | ALPL | Ida Ertmanska Gene: alpl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.29 | ALPL | Ida Ertmanska Phenotypes for gene: ALPL were changed from to Odontohypophosphatasia, OMIM:146300; hypophosphatasia, MONDO:0018570 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.28 | ALPL | Ida Ertmanska Publications for gene: ALPL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.27 | ALPL | Ida Ertmanska Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.26 | ALPL | Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: ALPL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.26 | ALPL | Ida Ertmanska reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500388, 34164522, 36101824, 39983296; Phenotypes: Odontohypophosphatasia, OMIM:146300, hypophosphatasia, MONDO:0018570; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amelogenesis imperfecta v4.25 | ALPL |
Claire Smith gene: ALPL was added gene: ALPL was added to Amelogenesis imperfecta. Sources: Literature,Expert Review Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Penetrance for gene: ALPL were set to Complete Review for gene: ALPL was set to GREEN Added comment: According to the review of ALPL literature, PMID: 39872235 "78.8% of adults with pediatric-onset HPP have dental involvement vs 42.6% of those with adult-onset HPP." "clinical observations can include enamel hypoplasia and discoloration (possibly contributing to increased caries prevalence), delayed tooth eruption, tooth mobility, and malocclusion (misalignment of upper and lower teeth due to incorrect positions along the dental arches)" (Note that enamel hypoplasia, although it can mean just specific teeth being affected, is also a term often used to reflect amelogenesis imperfecta in the presence of diseases affecting other organ systems, this is because the original definition of amelogenesis imperfecta excluded it being part of syndromic diseases, this is now changing) According to Chavez et al.'s ALPL review PMID: 32758526 "Ameloblasts, odontoblasts, cementoblasts, osteoblasts, and periodontal ligament (PDL) cells express TNAP (encoded by ALPL) ( (Bowden and Foster, 2019, Zweifler et al., 2015), indicating the enzyme may function in all aspects of dental and periodontal mineralization." ALPL is also included on the panel used by Fulgent genetics to screen patients with amelogenesis imperfecta https://fulgentgenetics.com/Amelogenesis-Imperfecta Sources: Literature, Expert Review |
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