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Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Added comment: Comment on phenotypes: Hypophosphatasia (Disorders of pyridoxine metabolism);Craniosynostosis syndromes phenotypes;Osteogenesis Imperfecta;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.268 ALPL Sarah Leigh Phenotypes for gene: ALPL were changed from Hypophosphatasia (Disorders of pyridoxine metabolism); Craniosynostosis syndromes phenotypes; Osteogenesis Imperfecta; Unexplained skeletal dysplasia to Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile 241500; Odontohypophosphatasia 146300
Undiagnosed metabolic disorders v1.267 ALPL Sarah Leigh Publications for gene: ALPL were set to 27604308
Undiagnosed metabolic disorders v1.266 ALPL Sarah Leigh Classified gene: ALPL as Green List (high evidence)
Undiagnosed metabolic disorders v1.266 ALPL Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported in hypophosphatasia, infantile 241500, some of these variants and others were found in childhood and adult Hypophosphatasia and two addtional variants were reported in a case of perinatal lethal hypophosphatasia (PMID 11745997).
Undiagnosed metabolic disorders v1.266 ALPL Sarah Leigh Gene: alpl has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders ALPL Sarah Leigh edited their review of ALPL
Undiagnosed metabolic disorders ALPL Sarah Leigh reviewed ALPL