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  3. APRT
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Kidneyome_SuperPanel_KidGen_VCGS

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

History Filter Activity

24 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene APRT was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown

23 Dec 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

Source Expert list was added to APRT. Mode of inheritance for gene APRT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Adenine phosphoribosyltransferase deficiency, MIM#614723 for gene: APRT Publications for gene APRT were changed from to 2227934; PubMed: 3680503; 1353080; 7915931

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: APRT was added gene: APRT was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: APRT was set to Unknown