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| Aminoacidopathy v1.47 | GAD1 | Zornitza Stark Marked gene: GAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GAD1 | Zornitza Stark Phenotypes for gene: GAD1 were changed from obsolete early infantile epileptic encephalopathy MONDO:0016021 to Developmental and epileptic encephalopathy 89, MIM# 619124 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.46 | GAD1 | Zornitza Stark Classified gene: GAD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.46 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | GAD1 |
Sangavi Sivagnanasundram changed review comment from: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907 Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recaptulated the human phenotype. Sources: ClinGen; to: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907 Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recapitulated the human phenotype. Sources: ClinGen |
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| Aminoacidopathy v1.18 | GAD1 |
Sangavi Sivagnanasundram gene: GAD1 was added gene: GAD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 28454995; 31144778; 32282878; 15571623; 32705143; 9177246; 9326630; 20333300 Phenotypes for gene: GAD1 were set to obsolete early infantile epileptic encephalopathy MONDO:0016021 Review for gene: GAD1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907 Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recaptulated the human phenotype. Sources: ClinGen |
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