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Early onset or syndromic epilepsy v1.191
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AARS2
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Rebecca Foulger Source Wessex and West Midlands GLH was added to AARS2.
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Early onset or syndromic epilepsy v1.190
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AARS2
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Rebecca Foulger Source NHS GMS was added to AARS2.
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Early onset or syndromic epilepsy v1.189
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AARS2
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Rebecca Foulger reviewed gene: AARS2: 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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AARS2
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Tracy Lester reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 21549344, 25817015; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy progressive with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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Early onset or syndromic epilepsy
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AARS2
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Sarah Leigh marked gene: AARS2 as ready
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Early onset or syndromic epilepsy
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AARS2
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Sarah Leigh classified AARS2 as Red List (low evidence)
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Early onset or syndromic epilepsy
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AARS2
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Arianna Tucci reviewed gene: AARS2
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Early onset or syndromic epilepsy
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AARS2
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Sarah Leigh Added gene to panel
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