Adult onset dystonia, chorea or related movement disorder
Gene: HPRT1EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 REDCreated: 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)
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
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Lesch-Nyhan syndrome, OMIM:300322
- Dystonia
- OMIM
- 308000
- Clinvar variants
- Variants in HPRT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Nephrocalcinosis or nephrolithiasis
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome, 300322; Dystonia to Lesch-Nyhan syndrome, OMIM:300322; Dystonia
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HPRT1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to HPRT1.
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