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| Hypophosphataemia or rickets v0.34 | DMP1 | Ivone Leong commented on gene: DMP1: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.32 | DMP1 | Ivone Leong Publications for gene: DMP1 were set to 17033625; 15590631; 22695891; 20213538 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.31 | DMP1 | Martina Owens edited their review of gene: DMP1: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.31 | DMP1 | Martina Owens reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033625, 17033621; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.6 | DMP1 | Ivone Leong Marked gene: DMP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.6 | DMP1 | Ivone Leong Added comment: 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. 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 his association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.6 | DMP1 | Ivone Leong Gene: dmp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.6 | DMP1 | Ivone Leong Publications for gene: DMP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.3 | DMP1 | Sian Ellard reviewed gene: DMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033625; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.1 | DMP1 |
Ivone Leong 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) |
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