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  2. Nephrocalcinosis or nephrolithiasis
  3. XDH
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Nephrocalcinosis or nephrolithiasis

Gene: XDH

Green List (high evidence)
XDH (xanthine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000158125
EnsemblGeneIds (GRCh37): ENSG00000158125
OMIM: 607633, Gene2Phenotype
XDH is in 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment 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 phenotype
Created: 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

Created: 22 Sep 2017, 9:22 a.m.

Panel version: 1.9

Sarah Leigh (Genomics England Curator)

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.
Created: 21 Mar 2017, 11:37 a.m.

Panel version: 1.6

Ellen McDonagh (Genomics England Curator)

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.
Created: 8 Jul 2015, 12:56 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Xanthinuria, type I, 278300
OMIM
607633
Clinvar variants
Variants in XDH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Sep 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for XDH was changed to BIALLELIC, autosomal or pseudoautosomal

22 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for XDH were set to Xanthinuria, type I, 278300

21 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Mar 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for XDH were set to 27604308;9153281

7 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

XDH was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert