ALPL

alkaline phosphatase, liver/bone/kidney
OMIM: 171760
PanelMode of inheritanceDetails
7 panels
R-numbers: R100
Signed-off version 2.2
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOPHOSPHATASIA 241500
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
HYPOPHOSPHATASIA
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia, adult 146300 AD, AR, Hypophosphatasia, childhood 241510 AR, Hypophosphatasia, infantile 241500 AR, Odontohypophosphatasia 146300 AD, AR
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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 2.2
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 2.2
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