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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to APRT. Added phenotypes Adenine phosphoribosyltransferase deficiency for gene: APRT Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to APRT. Added phenotypes Adenine phosphoribosyltransferase deficiency for gene: APRT Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to APRT. Added phenotypes Adenine phosphoribosyltransferase deficiency for gene: APRT Rating Changed from No List (delete) to Red List (low evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to APRT. Rating Changed from Red List (low evidence) to No List (delete)

9 Mar 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Adenine phosphoribosyltransferase deficiency for gene: APRT

9 Mar 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: APRT was added gene: APRT was added to Newborns main panel. Sources: Expert Review Red Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal