Genomics England

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Arterial calcification, generalized, of infancy, 1, OMIM:208000
Green in Generalised arterial calcification in infancy R-numbers: R384 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Hypophosphataemia or rickets R-numbers: R154 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypophosphatemic rickets, autosomal recessive, 2 (613312)
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 3.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cole disease
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cole disease, COLED, COLE DISEASE
Green in Pseudoxanthoma elasticum R-numbers: R420 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hypophosphatemic rickets, autosomal recessive, 2 613312, Arterial calcification, generalized, of infancy, 1 208000, Cole disease 615522