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Neurotransmitter Defects v0.38 | GABRB3 | Zornitza Stark changed review comment from: GABA receptor. Multiple unrelated families reported.; to: GABA receptor. Multiple unrelated families reported. Onset of multiple seizures types within the first year of life, and variable intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurotransmitter Defects v0.38 | GABRB3 | Zornitza Stark Marked gene: GABRB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurotransmitter Defects v0.38 | GABRB3 | Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurotransmitter Defects v0.38 | GABRB3 | Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurotransmitter Defects v0.37 | GABRB3 | Zornitza Stark Publications for gene: GABRB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurotransmitter Defects v0.36 | GABRB3 | Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurotransmitter Defects v0.35 | GABRB3 | Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurotransmitter Defects v0.0 | GABRB3 |
Zornitza Stark gene: GABRB3 was added gene: GABRB3 was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GABRB3 was set to Unknown |