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