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| Hypophosphataemia or rickets v2.5 | CLCN5 | Ivone Leong Publications for gene: CLCN5 were set to 28383812; 9187673 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.4 | CLCN5 | Martina Owens changed review comment from: Variants in this gene cause Dent disease - Oudet et al 1997 (PMID: 9187673) - family with four brothers presenting low molecular weight proteinuria, dramatic hypercalciuria and hypophosphataemic rickets. Morimoto et al 1998 (PMID: 9596078) - all patients had low molecular weight proteinuria (LMWP). LMWP is the pathognomonic finding of Dent disease, therfore possible that these patients will be tested using the Proteinuric renal disease panel. 60% patients with Dent disease have variant in this gene (NB. 15% of Dent patients have variants in the OCRL gene and this gene should be considerd for addition to the Proteinuric renal disease panel).; to: Variants in this gene cause Dent disease - Oudet et al 1997 (PMID: 9187673) - family with four brothers presenting low molecular weight proteinuria, dramatic hypercalciuria and hypophosphataemic rickets. Morimoto et al 1998 (PMID: 9596078) - all patients had low molecular weight proteinuria (LMWP). LMWP is the pathognomonic finding of Dent disease, therfore possible that these patients will be tested using the Proteinuric renal disease panel. 60% patients with Dent disease have variant in this gene (NB. 15% of Dent patients have variants in the OCRL gene and this gene should be considered for addition to the Proteinuric renal disease panel). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.34 | CLCN5 | Ivone Leong Marked gene: CLCN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.34 | CLCN5 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is insufficient evidence to rate this gene as green. So will remain as amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.34 | CLCN5 | Ivone Leong Gene: clcn5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.34 | CLCN5 | Martina Owens reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: 9596078, 9187673; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.20 | CLCN5 | Ivone Leong Classified gene: CLCN5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.20 | CLCN5 | Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on the previous comment. CLCN5 is confirmed to be associated with hypophosphataemic rickets on OMIM, but no phenotypes are listed for it on Gene2Phenotype. It is also a green gene on the Skeletal dysplasia panel (Version 1.129). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.20 | CLCN5 | Ivone Leong Gene: clcn5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.19 | CLCN5 | Ivone Leong Publications for gene: CLCN5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.8 | CLCN5 | Ivone Leong reviewed gene: CLCN5: Rating: ; Mode of pathogenicity: None; Publications: 28383812, 9187673; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v0.1 | CLCN5 |
Ivone Leong gene: CLCN5 was added gene: CLCN5 was added to Hypophosphataemia or rickets. Sources: Expert list,Emory Genetics Laboratory Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CLCN5 were set to Hypophosphatemic rickets (300554) |
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