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  3. APRT
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Renal Tubulopathies and related disorders

Gene: APRT

Green List (high evidence)
APRT (adenine phosphoribosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000198931
EnsemblGeneIds (GRCh37): ENSG00000198931
OMIM: 102600, Gene2Phenotype
APRT is in 5 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

APRT deficiency is an autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, hematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic.

Treatable: allopurinol or febuxostat, low purine diet.
Created: 22 Sep 2022, 12:02 a.m. | Last Modified: 22 Sep 2022, 12:02 a.m.
Panel Version: 0.71

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenine phosphoribosyltransferase deficiency MIM#614723

Created: 22 Sep 2022, 12:02 a.m.
Last Modified: 22 Sep 2022, 12:02 a.m.
Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.73

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association
Created: 6 May 2022, 5:10 a.m. | Last Modified: 6 May 2022, 5:10 a.m.
Panel Version: 0.13872

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenine phosphoribosyltransferase deficiency MIM#614723

Publications

Created: 6 May 2022, 5:10 a.m.
Last Modified: 6 May 2022, 5:10 a.m.
Panel version: Imported from Metabolic renal disease panel version Imported from Mendeliome panel version 0.13872

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Sources: Expert list
Created: 27 Nov 2019, 11:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenine phosphoribosyltransferase deficiency

Publications

Created: 27 Nov 2019, 11:09 p.m.

Panel version: Imported from Metabolic renal disease panel version 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, MIM#614723
OMIM
102600
Clinvar variants
Variants in APRT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: APRT was added gene: APRT was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APRT were set to 1353080; 2227934; 3680503; 7915931 Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM#614723