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  2. Likely inborn error of metabolism
  3. APRT
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Likely inborn error of metabolism

Gene: APRT

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 9 variants reported
Created: 23 Feb 2017, 5:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenine phosphoribosyltransferase deficiency 614723

Publications

Created: 23 Feb 2017, 5:12 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • 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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to APRT. Source London North GLH was added to APRT.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 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 Inborn errors of metabolism. 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)