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  3. DMP1
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Osteogenesis imperfecta

Gene: DMP1

Red List (low evidence)
DMP1 (dentin matrix acidic phosphoprotein 1)
EnsemblGeneIds (GRCh38): ENSG00000152592
EnsemblGeneIds (GRCh37): ENSG00000152592
OMIM: 600980, Gene2Phenotype
DMP1 is in 6 panels

4 reviews

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Phenotypes
autosomal recessive hypophosphataemic rickets

Publications

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Ellen Thomas (Genomics England Curator)

Comment on list classification: Incorrect phenotype.
Created: 16 May 2016, 2:20 p.m.
Created: 16 May 2016, 2:20 p.m.

Panel version: 0.170

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Dentinogenesis Imperfecta
Created: 27 Nov 2015, 3:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 27 Nov 2015, 3:03 p.m.

Panel version: 0

Details

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
OMIM
600980
Clinvar variants
Variants in DMP1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DMP1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DMP1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

23 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DMP1 was added to Osteogenesis Imperfecta panel. Sources: Expert