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  3. DMP1
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Skeletal dysplasia

Gene: DMP1

Green List (high evidence)
DMP1 (dentin matrix acidic phosphoprotein 1)
EnsemblGeneIds (GRCh38): ENSG00000152592
EnsemblGeneIds (GRCh37): ENSG00000152592
OMIM: 600980, Gene2Phenotype
DMP1 is in 8 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established association
Created: 9 May 2022, 2:06 a.m. | Last Modified: 9 May 2022, 2:06 a.m.
Panel Version: 0.13955

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypophosphatemic rickets MIM#241520

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 May 2022, 2:06 a.m.
Last Modified: 9 May 2022, 2:06 a.m.
Panel version: Imported from Mendeliome panel version 0.13955

Details

Mode of Inheritance
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
OMIM
600980
Clinvar variants
Variants in DMP1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DMP1 was added gene: DMP1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMP1 were set to 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