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| Hypophosphataemia or rickets v0.34 | SLC34A3 | Ivone Leong commented on gene: SLC34A3: 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 | SLC34A3 | Martina Owens reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16358214, 16358215; Phenotypes: Hypophosphatemic rickets with hypercalciuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.9 | SLC34A3 | Ivone Leong commented on gene: SLC34A3: SLC34A3 is a green gene on the Skeletal dysplasia panel (Version 1.129). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.8 | SLC34A3 | Ivone Leong Marked gene: SLC34A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.8 | SLC34A3 | Ivone Leong Added comment: Comment when marking as ready: OMIM lists hypophosphataemic rickets as a phenotype associated with SLC34A3; however, nothing is listed on Gene2Phenotype. There are more then 3 families with hypophosphataemic rickets with different SLC34A3 variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.8 | SLC34A3 | Ivone Leong Gene: slc34a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.8 | SLC34A3 | Ivone Leong Publications for gene: SLC34A3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.3 | SLC34A3 | Sian Ellard reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.1 | SLC34A3 |
Ivone Leong gene: SLC34A3 was added gene: SLC34A3 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: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria (241530) |
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