19 Sep 2019
Undiagnosed metabolic disorders v1.268
ALPL
Sarah Leigh Deleted their comment
19 Sep 2019
Undiagnosed metabolic disorders v1.268
ALPL
Sarah Leigh Deleted their comment
19 Sep 2019
Undiagnosed metabolic disorders v1.268
ALPL
Sarah Leigh Deleted their comment
19 Sep 2019
Undiagnosed metabolic disorders v1.268
ALPL
Sarah Leigh Deleted their comment
19 Sep 2019
Undiagnosed metabolic disorders v1.268
ALPL
Sarah Leigh Deleted their comment
19 Sep 2019
Undiagnosed metabolic disorders v1.268
ALPL
Sarah Leigh Deleted their comment
19 Sep 2019
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
19 Sep 2019
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
19 Sep 2019
Undiagnosed metabolic disorders v1.267
ALPL
Sarah Leigh Publications for gene: ALPL were set to 27604308
19 Sep 2019
Undiagnosed metabolic disorders v1.266
ALPL
Sarah Leigh Classified gene: ALPL as Green List (high evidence)
19 Sep 2019
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).
19 Sep 2019
Undiagnosed metabolic disorders v1.266
ALPL
Sarah Leigh Gene: alpl has been classified as Green List (High Evidence).
06 Jan 2017
Undiagnosed metabolic disorders
ALPL
Sarah Leigh edited their review of ALPL
06 Jan 2017
Undiagnosed metabolic disorders
ALPL
Sarah Leigh edited their review of ALPL
06 Jan 2017
Undiagnosed metabolic disorders
ALPL
Sarah Leigh edited their review of ALPL
06 Jan 2017
Undiagnosed metabolic disorders
ALPL
Sarah Leigh edited their review of ALPL
06 Jan 2017
Undiagnosed metabolic disorders
ALPL
Sarah Leigh edited their review of ALPL
06 Jan 2017
Undiagnosed metabolic disorders
ALPL
Sarah Leigh reviewed ALPL