ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1
OMIM: 173335, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green ENPP1 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Arterial calcification, generalized, of infancy, 1, MIM# 208000 Cole disease, MIM# 615522 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Green ENPP1 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cole disease (MIM#615522)
Green ENPP1 in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Phenotypes Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Green ENPP1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Cole disease 615522 Arterial calcification, generalized, of infancy, 1 208000 Hypophosphatemic rickets, autosomal recessive, 2 613312
Green ENPP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Green ENPP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Arterial calcification, generalized, of infancy, 1
Amber ENPP1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Arterial calcification, generalized, of infancy, 1, MIM3 208000 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Green ENPP1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Green ENPP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Arterial calcification, generalized, of infancy, 1, MIM# 208000 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Tags treatable endocrine vascular
Green ENPP1 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Phenotypes Arterial calcification, generalized, of infancy, 1, MIM# 208000 Cole disease, MIM# 615522 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Green ENPP1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Green ENPP1 in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 0.1 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cole disease, MIM# 615522 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Arterial calcification, generalized, of infancy, 1, MIM# 208000