Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: HPRT1

Green List (high evidence)

HPRT1 (hypoxanthine phosphoribosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 13 panels

1 review

Sarah Leigh (Genomics England Curator)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)


History Filter Activity

22 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HPRT1 were changed from HPRT-related gout to Hyperuricemia, HRPT-related, OMIM:300323; Lesch-Nyhan syndrome, OMIM:300322

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HPRT1. Source London North GLH was added to HPRT1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 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 Inborn errors of metabolism. 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