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Molecular autopsy

Gene: HPRT1

Green List (high evidence)
HPRT1 (hypoxanthine phosphoribosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 11 panels

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History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes HPRT-related gout for gene: HPRT1

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HPRT1 was added gene: HPRT1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HPRT1 were set to 27604308 Phenotypes for gene: HPRT1 were set to HPRT-related gout