1. Genes and Genomic Entities
  2. DMP1

DMP1

dentin matrix acidic phosphoprotein 1
OMIM: 600980, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green DMP1 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
Phenotypes
  • Hypophosphatemic rickets, AR (241520)
Green DMP1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Multiple synostoses syndrome 2, 610017
    • Chondrodysplasia, Grebe type, 200700
    • Brachydactyly, type C, 113100
    • Hypophosphatemic rickets, AR, 241520
    • Brachydactyly, type A1, C, 615072
    • Brachydactyly, type A2, 112600
    • Acromesomelic dysplasia, Hunter-Thompson type, 201250
    • {Osteoarthritis-5}, 612400
    • Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1)
    • skeletal dysplasias
    • Osteogenesis Imperfecta and Decreased Bone Density
    • Du Pan syndrome, 228900
    • Symphalangism, proximal, 1B, 615298
    • Hypophosphatemic rickets, AR, 241520
    Red DMP1 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HYPOPHOSPHATEMIC RICKETS, AR
    Red DMP1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Expert
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • Acromesomelic dysplasia, Hunter-Thompson type, 201250
    • Brachydactyly, type C, 113100
    • Chondrodysplasia, Grebe type, 200700
    • Du Pan syndrome, 228900
    • Brachydactyly, type A2, 112600
    • Symphalangism, proximal, 1B, 615298
    • Multiple synostoses syndrome 2, 610017
    • {Osteoarthritis-5}, 612400
    • Brachydactyly, type A1, C, 615072
    • Hypophosphatemic rickets, AR, 241520
    Green DMP1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HYPOPHOSPHATEMIC RICKETS, AR 241520
    Red DMP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    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
    • Hypophosphatemic rickets, AR, 241520
    Green DMP1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypophosphatemic rickets, AR, 241520