Adult onset movement disorderGene: HPRT1
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.
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.
Lesch-Nyhan syndrome, 300322
Added phenotypes Lesch-Nyhan syndrome, 300322 for gene: HPRT1 Publications for gene HPRT1 were changed from to 20176575
Source NHS GMS was added to HPRT1.
Source South West GLH was added to HPRT1.
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