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Mendeliome v0.607 GOT2 Zornitza Stark Marked gene: GOT2 as ready
Mendeliome v0.607 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Mendeliome v0.607 GOT2 Zornitza Stark Classified gene: GOT2 as Green List (high evidence)
Mendeliome v0.607 GOT2 Zornitza Stark Gene: got2 has been classified as Green List (High Evidence).
Mendeliome v0.606 GOT2 Zornitza Stark gene: GOT2 was added
gene: GOT2 was added to Mendeliome_VCGS. Sources: Expert list
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Epileptic encephalopathy, early infantile, 82, MIM# 618721
Review for gene: GOT2 was set to GREEN
Added comment: Four individuals from three unrelated families reported. Treatment with pyridoxine and serine ameliorated the phenotype.
Sources: Expert list