Genes in panel

Adult onset movement disorder

Gene: HPRT1

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:16 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Presenting feature is usually hypotonia and delayed motor skills. Extrapyramidal features develop in first years of life and can include dystonia. If residual enzyme activity remains phenotype can be less severe. Presentation in childhood.
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Lesch-Nyhan syndrome, 300322

Publications

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1 Publications for gene HPRT1 were changed from to 20176575

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HPRT1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to HPRT1.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: HPRT1 was added gene: HPRT1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: HPRT1 was set to Phenotypes for gene: HPRT1 were set to Dystonia