Nephrocalcinosis or nephrolithiasis
Gene: XDHComment on mode of inheritance: Changed MOI from XLR to Biallelic. The gene XDH is located on chrs 2p23.1. Xanthinuria, type I, MOI is biallelic (AR)Created: 22 Sep 2017, 9:33 a.m.
Comment on phenotypes: added phenotypeCreated: 22 Sep 2017, 9:31 a.m.
The gene XDH is located on chrs 2p23.1. Xanthinuria, type I, MOI is biallelic (AR)Created: 22 Sep 2017, 9:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel.Created: 21 Mar 2017, 11:37 a.m.
Mode of inheritance submitted by expert was "XLR", mapping to X-linked recessive = X-LINKED: hemizygous mutation in males, biallelic mutations in females.Created: 8 Jul 2015, 12:56 p.m.
Mode of inheritance for XDH was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for XDH were set to Xanthinuria, type I, 278300
This gene has been classified as Green List (High Evidence).
Publications for XDH were set to 27604308;9153281
XDH was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert