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Renal tubulopathies v1.8 XPR1 Ellen McDonagh Classified gene: XPR1 as Red List (low evidence)
Renal tubulopathies v1.8 XPR1 Ellen McDonagh Added comment: Comment on list classification: Gene added to this panel by a Reviewer. Made red due to this being a novel gene.
Renal tubulopathies v1.8 XPR1 Ellen McDonagh Gene: xpr1 has been classified as Red List (Low Evidence).
Renal tubulopathies v1.5 XPR1 John Sayer gene: XPR1 was added
gene: XPR1 was added to Renal tubular acidosis. Sources: Literature,Expert Review
Mode of inheritance for gene: XPR1 was set to Unknown
Publications for gene: XPR1 were set to 27799484
Phenotypes for gene: XPR1 were set to Fanconi syndrome; hypophosphatamia
Penetrance for gene: XPR1 were set to unknown
Mode of pathogenicity for gene: XPR1 was set to Other
Review for gene: XPR1 was set to RED
Added comment: Potential novel gene involved in Renal Fanconi and Renal Tubular Acidosis
Sources: Literature, Expert Review