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Genetic Epilepsy v0.71 GUF1 Zornitza Stark Marked gene: GUF1 as ready
Genetic Epilepsy v0.71 GUF1 Zornitza Stark Gene: guf1 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.71 GUF1 Zornitza Stark gene: GUF1 was added
gene: GUF1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list
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, MIM# 617065
Review for gene: GUF1 was set to RED
Added comment: Single family reported with homozygous missense in three sibs.
Sources: Expert list