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Early onset or syndromic epilepsy v1.191 SHH Rebecca Foulger Source Wessex and West Midlands GLH was added to SHH.
Early onset or syndromic epilepsy v1.190 SHH Rebecca Foulger Source NHS GMS was added to SHH.
Early onset or syndromic epilepsy v1.189 SHH Rebecca Foulger reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SHH 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
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Marked gene: SHH as ready
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Added comment: Comment when marking as ready: Associated with somatic variants and so not relevant to this panel.
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Gene: shh has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Classified gene: SHH as Red List (low evidence)
Early onset or syndromic epilepsy v0.1553 SHH Sarah Leigh Gene: shh has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy SHH Zornitza Stark reviewed gene: SHH
Early onset or syndromic epilepsy SHH Sarah Leigh Added gene to panel