ALPL

alkaline phosphatase, liver/bone/kidney
OMIM: 171760
PanelMode of inheritanceDetails
8 panels
R-numbers: R100
Signed-off version 3.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
hypophosphatasia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOPHOSPHATASIA 241500
R-numbers: R21, R412
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
HYPOPHOSPHATASIA
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia, adult 146300 AD, AR, Hypophosphatasia, childhood 241510 AR, Hypophosphatasia, infantile 241500 AR, Odontohypophosphatasia 146300 AD, AR
R-numbers: R154
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia, infantile, OMIM:241500, MONDO:0009427, Hypophosphatasia, childhood, OMIM:241500, MONDO:0009428
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
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
R-numbers: R102
Signed-off version 3.1
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
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