Early onset dystonia
Gene: HPRT1Comment on list classification: Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numous variants have been reported in Lesch-Nyhan syndrome (OMIM:300322) cases.Created: 6 Sep 2022, 10:35 a.m. | Last Modified: 6 Sep 2022, 10:35 a.m.
Panel Version: 1.124
Jinnah, et al. (2006) studied 44 Lesch–Nyhan disease patients (age range between 2 and 38 years; only one of them was female; all experienced severe dystonia). Multiple rare HPRT1 variants (including at least 2 splice site variants (IVS6-1G>A (also known as c.486-1G>A), and IVS4+1G>A (also known as c.384+1G>A)), as well as exon 1 deletion, and exon 9 deletion) in patients (the majority of which were under 31 years of age when they were first seen by a clinician) with hypoxanthine-guanine phosphoribosyltransferase activity below 1% have been reported. As of August 2022, the c.486-1G>A and c.384+1G>A variants were absent from gnomAD version 2.1.1, and no high-frequency structural variants have been reported in gnomAD SVs v2.1 either.Created: 29 Aug 2022, 12:55 p.m. | Last Modified: 29 Aug 2022, 12:57 p.m.
Panel Version: 1.120
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Phenotypes for gene: HPRT1 were changed from Lesch-Nyhan syndrome, OMIM:300322; Dystonia to Lesch-Nyhan syndrome, OMIM:300322
Gene: hprt1 has been classified as Green List (High Evidence).
Publications for gene: HPRT1 were set to
Mode of inheritance for gene: HPRT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were changed from Dystonia to Lesch-Nyhan syndrome, OMIM:300322; Dystonia
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
HPRT1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory