DMP1

dentin matrix acidic phosphoprotein 1
OMIM: 600980, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green DMP1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatemic rickets MIM#241520

Green DMP1 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hypophosphataemic rickets, MIM#600980

Green DMP1 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
Phenotypes
  • Hypophosphatemic rickets MIM#241520

Green DMP1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

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

Green DMP1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hypophosphatemic rickets, AR

Red DMP1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Hypophosphatemic rickets, AR MIM#241520

Green DMP1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Hypophosphatemic rickets MIM#241520
Tags
  • treatable
  • skeletal

Green DMP1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CalcPhos v38.1.0
    • Expert Review Green
    Phenotypes
    • Hypophosphatemic rickets MIM#241520