Genomics England

ALPL

alkaline phosphatase, liver/bone/kidney

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPOPHOSPHATASIA 241500
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypophosphatasia, adult 146300 AD, AR, Hypophosphatasia, childhood 241510 AR, Hypophosphatasia, infantile 241500 AR, Odontohypophosphatasia 146300 AD, AR
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes HYPOPHOSPHATASIA
Green in Hypophosphataemia or rickets R-numbers: R154 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypophosphatasia, infantile, OMIM:241500, MONDO:0009427, Hypophosphatasia, childhood, OMIM:241500, MONDO:0009428
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Hypophosphatasia, adult 146300, Hypophosphatasia, childhood 241510, Hypophosphatasia, infantile241500, Odontohypophosphatasia 146300
Green in Osteogenesis imperfecta R-numbers: R102 Signed-off version 4.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, Hypophosphatasia
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 4.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes hypophosphatasia
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes hypophosphatasia, skeletal dysplasias, skeletal dysplasias, Osteogenesis Imperfecta and Decreased Bone Density