Likely inborn error of metabolism - targeted testing not possible
Gene: ALPLComment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
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).Created: 12 Aug 2019, 1:09 p.m. | Last Modified: 12 Aug 2019, 1:13 p.m.
Panel Version: 1.85
Publications for gene: ALPL were set to 27604308; 11745997; 1409720; 17213282
Publications for gene: ALPL were set to 27604308; 11745997; 1409720; 17213282
Publications for gene: ALPL were set to 27604308
Gene: alpl has been classified as Green List (High Evidence).
Phenotypes for gene: ALPL were changed from Unexplained skeletal dysplasia; Osteogenesis Imperfecta; Craniosynostosis syndromes phenotypes; Hypophosphatasia (Disorders of pyridoxine metabolism) to Hypophosphatasia, adult 146300; Hypophosphatasia, childhood 241510; Hypophosphatasia, infantile241500; Odontohypophosphatasia 146300
Source NHS GMS was added to ALPL. Source London North GLH was added to ALPL.
Sarah Leigh: Associated with relevant pheno
gene: ALPL was added gene: ALPL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ALPL were set to 27604308 Phenotypes for gene: ALPL were set to Unexplained skeletal dysplasia; Osteogenesis Imperfecta; Craniosynostosis syndromes phenotypes; Hypophosphatasia (Disorders of pyridoxine metabolism)