Osteopetrosis
Gene: DMP1EnsemblGeneIds (GRCh38): ENSG00000152592
EnsemblGeneIds (GRCh37): ENSG00000152592
OMIM: 600980, Gene2Phenotype
DMP1 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Included due to phenotypic overlap: osteosclerotic changes on X-rays, severe in some individuals.
Sources: Expert ReviewCreated: 14 Mar 2024, 6:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphataemic rickets, MIM#600980
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hypophosphataemic rickets, MIM#600980
- OMIM
- 600980
- Clinvar variants
- Variants in DMP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dmp1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dmp1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DMP1 was added gene: DMP1 was added to Osteopetrosis. Sources: Expert Review Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMP1 were set to 17033625 Phenotypes for gene: DMP1 were set to Hypophosphataemic rickets, MIM#600980 Review for gene: DMP1 was set to GREEN