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Fetal anomalies

Gene: DMP1

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

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Postnatal onset.

Lorenz-Depiereux et al. (2006) investigated 3 multiplex families in which the affected individuals showed clinical, biochemical, and histomorphologic parameters similar to those observed in X-linked hypophosphatemia (XLH; 307800) and autosomal dominant hypophosphatemic rickets (ADHR; 193100). Direct sequencing identified different homozygous, presumably loss-of-function mutations in DMP1 in all 3 families. Each of the unaffected parents was heterozygous for the respective mutation.

In 2 families with autosomal recessive hypophosphatemic rickets, Feng et al. (2006) identified mutations in the DMP1 gene. Affected individuals manifested rickets and osteomalacia with isolated renal phosphate wasting associated with elevated fibroblast growth factor-23 (FGF23; 605380) levels and normocalciuria.

Whyte et al. (2020) describe severe hypophosphatemic osteosclerosis and hyperostosis associated with skeletal deformity, short stature, enthesopathy, tooth loss, and high circulating FGF23 levels in a middle-aged man and young woman from an endogamous family living in southern India. Both shared novel homozygous mutation in DMP1 (c.556G>T, p.Glu186Ter).
Created: 16 Feb 2022, 3:35 a.m. | Last Modified: 16 Feb 2022, 3:35 a.m.
Panel Version: 0.3544

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypophosphatemic rickets, AR MIM#241520

Publications

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

Created: 16 Feb 2022, 3:35 a.m.
Last Modified: 16 Feb 2022, 3:35 a.m.
Panel version: 0.3544

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Hypophosphatemic rickets, AR MIM#241520
OMIM
600980
Clinvar variants
Variants in DMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dmp1 has been classified as Red List (Low Evidence).

17 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DMP1 were changed from HYPOPHOSPHATEMIC RICKETS, AR to Hypophosphatemic rickets, AR MIM#241520

17 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DMP1 were set to

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR