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Early onset or syndromic epilepsy v2.472 HPRT1 Arina Puzriakova Mode of inheritance for gene: HPRT1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v2.471 HPRT1 Arina Puzriakova Phenotypes for gene: HPRT1 were changed from to Lesch-Nyhan syndrome, OMIM:300322
Early onset or syndromic epilepsy v1.191 HPRT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to HPRT1.
Early onset or syndromic epilepsy v1.190 HPRT1 Rebecca Foulger Source NHS GMS was added to HPRT1.
Early onset or syndromic epilepsy v1.189 HPRT1 Rebecca Foulger reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 HPRT1 Tracy Lester reviewed gene: HPRT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HPRT-related gout, 300323, Lesch-Nyhan syndrome, 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.1532 HPRT1 Sarah Leigh Marked gene: HPRT1 as ready
Early onset or syndromic epilepsy v0.1532 HPRT1 Sarah Leigh Added comment: Comment when marking as ready: Based on reviewers' comments.
Early onset or syndromic epilepsy v0.1532 HPRT1 Sarah Leigh Gene: hprt1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy HPRT1 Zornitza Stark reviewed gene: HPRT1
Early onset or syndromic epilepsy HPRT1 Sarah Leigh Added gene to panel