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  3. HPRT1
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Dystonia - complex

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dystonia and choreoathetosis are prominent features of the phenotype.
Created: 6 Sep 2020, 5:48 a.m. | Last Modified: 6 Sep 2020, 5:48 a.m.
Panel Version: 0.100

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Lesch-Nyhan syndrome, MIM# 300322

Publications

Created: 6 Sep 2020, 5:48 a.m.
Last Modified: 6 Sep 2020, 5:48 a.m.
Panel version: 0.100

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Lesch-Nyhan syndrome
  • Dystonia
OMIM
308000
Clinvar variants
Variants in HPRT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hprt1 has been classified as Green List (High Evidence).

6 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPRT1 were set to

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HPRT1 was added gene: HPRT1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome; Dystonia