Activity
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| Early onset or syndromic epilepsy v1.189 | GUF1 | Rebecca Foulger reviewed gene: GUF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | GUF1 | Tracy Lester reviewed gene: GUF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26486472; Phenotypes: ?Epileptic encephalopathy, early infantile, 40, 617065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.187 | GUF1 |
Rebecca Foulger gene: GUF1 was added gene: GUF1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GUF1 were set to 26486472 Phenotypes for gene: GUF1 were set to ?Epileptic encephalopathy, early infantile, 40, 617065 |
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