1. Panels
  2. Metabolic renal disease_KidGen
  3. APRT
STRs in panel
Prev Next
Regions in panel
Prev Next

Metabolic renal disease_KidGen

Gene: APRT

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

0 reviews

Details

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

History Filter Activity

23 Dec 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: APRT was added gene: APRT was added to Metabolic renal disease_KidGen. 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 PubMed: 3680503; 1353080; 2227934; 7915931 Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM#614723