Early onset or syndromic epilepsy
Gene: HPRT1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Almost all reported disease-causing variants are associated with Lesch Nyhan syndrome.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
HPRT-related gout, 300323; Lesch-Nyhan syndrome, 300322
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 1:22 p.m.
Seizures seem to be a rare feature of this metabolic disorder.Created: 15 Aug 2018, 1:43 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lesch-Nyhan syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 to Lesch-Nyhan syndrome, OMIM:300322
Source Wessex and West Midlands GLH was added to HPRT1.
Source NHS GMS was added to HPRT1.
Zornitza Stark: Seizures seem to be a rare fea
Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to HPRT1. Panel: Genetic Epilepsy Syndromes
HPRT1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
HPRT1 was created by Sarah Leigh