Skeletal dysplasia
Gene: DMP1
Abnormal mineralization gp of SD - several cases with overlapping phenotypes; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets, AR, 241520
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DMP1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:34 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:44 p.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypophosphatemic rickets, 241520
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hypophosphatemic rickets, AR, 241520 for gene: DMP1
Source NHS GMS was added to DMP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for DMP1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
DMP1 was added to Unexplained skeletal dysplasiapanel. Source: Expert DMP1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory DMP1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen DMP1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
DMP1 was created by sleigh
DMP1 was added to Unexplained skeletal dysplasiapanel. Sources: