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| Hypophosphataemia or rickets v0.34 | ENPP1 | Ivone Leong commented on gene: ENPP1: 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 v0.31 | ENPP1 | Martina Owens reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137773, 20137772; Phenotypes: Hypophosphatemia, rickets; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.9 | ENPP1 | Ivone Leong commented on gene: ENPP1: ENPP1 is a green gene on the Skeletal dysplasia panel (Version 1.129). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.7 | ENPP1 | Ivone Leong Marked gene: ENPP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.7 | ENPP1 | Ivone Leong Added comment: Comment when marking as ready: Both OMIM and Gene2Phenotype confirm that ENPP1 is associated with autosomal recessive hypophosphataemic rickets (ARHR). One study (PMID: 20137773) describes 5 individuals with ARHR from 4 unrelated families. The study found 3 different ENPP1 variants. Another study (PMID: 20137772) reported on two brothers with ARHR who have homozygous ENPP1 variant. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.7 | ENPP1 | Ivone Leong Gene: enpp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.7 | ENPP1 | Ivone Leong Publications for gene: ENPP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.3 | ENPP1 | Sian Ellard reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137773; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.1 | ENPP1 |
Ivone Leong gene: ENPP1 was added gene: ENPP1 was added to Hypophosphataemia or rickets. Sources: Expert list,UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2 (613312) |
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