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| Intellectual disability - microarray and sequencing v2.523 | GTPBP2 | Louise Daugherty Classified gene: GTPBP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.523 | GTPBP2 | Louise Daugherty Added comment: Comment on list classification: New gene suggested by external reviewer and reviewed by curation team. More than three unrelated individuals reported in the literature, ID is part of the phenotype. Publications support gene-disease association and rating of this gene to Green. At least 4 variants homozygous variants identified in 4 unrelated cases, common features included developmental delay and severe intellectual disability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.523 | GTPBP2 | Louise Daugherty Gene: gtpbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.522 | GTPBP2 | Louise Daugherty Added comment: Comment on phenotypes: added phenotype from OMIM and MIMid | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.522 | GTPBP2 | Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Global developmental delay; Intellectual disability; Seizures to Jaberi-Elahi syndrome, 617988; Global developmental delay; Intellectual disability; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing | GTPBP2 | Konstantinos Varvagiannis Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||