Dystonia - childhood onset

Gene: HPRT1

Red List (low evidence)

HPRT1 (hypoxanthine phosphoribosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 14 panels

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History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: HPRT1 was added gene: HPRT1 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: HPRT1 was set to Unknown Phenotypes for gene: HPRT1 were set to Dystonia