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  3. DMP1
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Hypophosphataemia or rickets

Gene: DMP1

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

3 reviews

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

Variants identified in >3 families in the literature. Loss-of-function results in elevated circulating FGF23. Variants in this gene reported as part of current diagnostic service.
Created: 28 Jan 2019, 9:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypophosphatemia; rickets

Publications

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

Created: 28 Jan 2019, 9:25 a.m.

Panel version: 0.31

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 11:44 a.m.
Comment when marking as ready: Hypophosphataemic rickets confirmed on OMIM and Gene2Phenotype as associated with DMP1. DMP1 is a green gene on the Skeletal dysplasia panel (Version 1.129). One study reported 3 unrelated families with affected members diagnosed with hypophosphataemic rickets who have DMP1 variants (PMID: 17033625). Another 2 studies reported 2 patients with variants in DMP1 diagnosed with hypophosphataemic rickets (PMID: 22695891,20213538). There is also a mouse model (PMID:15590631) to further support this association.
Created: 28 Nov 2018, 2:10 p.m.
Created: 28 Nov 2018, 2:10 p.m.

Panel version: 0.34

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Created: 24 Nov 2018, 3:20 p.m.

Panel version: 0.3

Details

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

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment when marking as ready:

28 Jan 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DMP1 were set to 17033625; 15590631; 22695891; 20213538

28 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dmp1 has been classified as Green List (High Evidence).

28 Nov 2018, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DMP1 were set to

16 Nov 2018, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: DMP1 was added gene: DMP1 was added to Hypophosphataemia or rickets. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR (241520)