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Molecular autopsy

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
Phenotypes
  • Adenine phosphoribosyltransferase deficiency 614723
  • Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
OMIM
102600
Clinvar variants
Variants in APRT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Adenine phosphoribosyltransferase deficiency 614723; Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) for gene: APRT

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: APRT was added gene: APRT was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APRT were set to 27604308 Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency 614723; Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)