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Early onset or syndromic epilepsy v1.191
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SHH
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Rebecca Foulger Source Wessex and West Midlands GLH was added to SHH.
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Early onset or syndromic epilepsy v1.190
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SHH
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Rebecca Foulger Source NHS GMS was added to SHH.
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Early onset or syndromic epilepsy v1.189
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SHH
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Rebecca Foulger reviewed gene: SHH: 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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SHH
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Tracy Lester reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 8896572; Phenotypes: Holoprosencephaly 3, 142945 , Microphthalmia with coloboma 5, 611638 , Schizencephaly, 269160 , Single median maxillary central incisor, 147250 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Early onset or syndromic epilepsy v0.1553
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SHH
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Sarah Leigh Marked gene: SHH as ready
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Early onset or syndromic epilepsy v0.1553
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SHH
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Sarah Leigh Added comment: Comment when marking as ready: Associated with somatic variants and so not relevant to this panel.
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Early onset or syndromic epilepsy v0.1553
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SHH
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Sarah Leigh Gene: shh has been classified as Red List (Low Evidence).
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Early onset or syndromic epilepsy v0.1553
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SHH
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Sarah Leigh Classified gene: SHH as Red List (low evidence)
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Early onset or syndromic epilepsy v0.1553
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SHH
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Sarah Leigh Gene: shh has been classified as Red List (Low Evidence).
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Early onset or syndromic epilepsy
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SHH
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Zornitza Stark reviewed gene: SHH
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Early onset or syndromic epilepsy
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SHH
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Sarah Leigh Added gene to panel
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