ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1
OMIM: 173335
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arterial calcification, generalized, of infancy, 1, OMIM:208000
R-numbers: R154
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets, autosomal recessive, 2 (613312)
R-numbers: R165
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
R-numbers: R166
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cole disease
R-numbers: R236
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cole disease, COLED, COLE DISEASE
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets, autosomal recessive, 2 613312, Arterial calcification, generalized, of infancy, 1 208000, Cole disease 615522