ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1
OMIM: 173335, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green ENPP1 in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.35	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Cole disease, 615522 (includes punctate palmoplantar keratoderma)
No list ENPP1 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	review	Not set	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Ossification of posterior longitudinal ligament of spine, 602475 {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 {Obesity, susceptibility to}, 601665 Arterial calcification, generalized, of infancy, 1, 208000 Hypophos Tags curated_removed
No list ENPP1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	Not set	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Ossification of posterior longitudinal ligament of spine, 602475 {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 {Obesity, susceptibility to}, 601665 Arterial calcification, generalized, of infancy, 1, 208000 Hypophos Tags curated_removed
Green ENPP1 in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
Green ENPP1 in Hypophosphataemia or rickets Level 2: Endocrinology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Expert list Phenotypes Hypophosphatemic rickets, autosomal recessive, 2 (613312)
Green ENPP1 in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cole disease
Green ENPP1 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cole disease COLED COLE DISEASE
No list ENPP1 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	Not set	Sources Expert Review Removed Radboud University Medical Center, Nijmegen Phenotypes Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos Tags curated_removed
No list ENPP1 in Monogenic diabetes Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	review	Unknown	Sources Expert Review Removed Phenotypes Ossification of posterior longitudinal ligament of spine, 602475{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853{Obesity, susceptibility to}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos Tags curated_removed
Green ENPP1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Hypophosphatemic rickets, autosomal recessive, 2 613312 Arterial calcification, generalized, of infancy, 1 208000 Cole disease 615522
Green ENPP1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Arterial calcification, generalized, of infancy, 1, OMIM:208000
Red ENPP1 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Emory Genetics Laboratory Phenotypes Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias
Green ENPP1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000
Red ENPP1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 {Obesity, susceptibility to}, 601665 Arterial calcification, generalized, of infancy, 1, 208000 Hypophosphatemic rickets, autosomal recessive, 2, 613312 Cole disease, 615522
Green ENPP1 in Generalised arterial calcification in infancy Level 2: Cardiology Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Arterial calcification, generalized, of infancy, 1, OMIM:208000 arterial calcification, generalized, of infancy, 1, MONDO:0008817
Green ENPP1 in Pseudoxanthoma elasticum Level 2: Ophthalmology Version 1.4 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Arterial calcification, generalized, of infancy, 1, OMIM:208000 arterial calcification, generalized, of infancy, 1, MONDO:0008817