ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1
OMIM: 173335, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels
Green ENPP1 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

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 1.11

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 1.67

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


Version 3.22
Latest signed off version: v3.2 (22 Mar 2023)

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


Version 3.4
Latest signed off version: v3.0 (30 Nov 2022)

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


Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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 1.67

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


Version 2.54
Latest signed off version: v2.2 (25 Feb 2020)

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 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • UKGTN
    • 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


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Green ENPP1 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    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 Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arterial calcification, generalized, of infancy, 1, 208000
    • Cole disease, 615522
    • Hypophosphatemic rickets, autosomal recessive, 2, 613312
    Green ENPP1 in Generalised arterial calcification in infancy


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Green ENPP1 in Pseudoxanthoma elasticum


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green