Renal tubulopathies

Gene: XPR1

Red List (low evidence)

XPR1 (xenotropic and polytropic retrovirus receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000143324
EnsemblGeneIds (GRCh37): ENSG00000143324
OMIM: 605237, Gene2Phenotype
XPR1 is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to this panel by a Reviewer. Made red due to this being a novel gene.
Created: 19 Sep 2018, 3:38 p.m.

John Sayer (Newcastle University)

Red List (low evidence)

Potential novel gene involved in Renal Fanconi and Renal Tubular Acidosis
Sources: Literature, Expert Review
Created: 8 Sep 2018, 6:42 p.m.

Mode of inheritance

Fanconi syndrome; hypophosphatamia


Mode of pathogenicity

History Filter Activity

19 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: xpr1 has been classified as Red List (Low Evidence).

8 Sep 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

John Sayer (Newcastle University)

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