Hypophosphataemia or rickets
Gene: DMP1
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
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong: Comment when marking as ready:
Publications for gene: DMP1 were set to 17033625; 15590631; 22695891; 20213538
Gene: dmp1 has been classified as Green List (High Evidence).
Publications for gene: DMP1 were set to
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)