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Early onset or syndromic epilepsy v1.191 GTPBP2 Rebecca Foulger Source Wessex and West Midlands GLH was added to GTPBP2.
Early onset or syndromic epilepsy v1.190 GTPBP2 Rebecca Foulger Source NHS GMS was added to GTPBP2.
Early onset or syndromic epilepsy v1.189 GTPBP2 Rebecca Foulger reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GTPBP2 Tracy Lester reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26675814, 29449720 ; Phenotypes: Jaberi-Elahi syndrome, 617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.511 GTPBP2 Louise Daugherty Added comment: Comment on phenotypes: added additional phenotype suggested by external reviewer
Early onset or syndromic epilepsy v0.511 GTPBP2 Louise Daugherty Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome 617988 to Jaberi-Elahi syndrome 617988; Global developmental delay; Intellectual disability; Seizures
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Marked gene: GTPBP2 as ready
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants homozygous variants identified in 4 unrelated cases whose phenotype included seizures.
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Gene: gtpbp2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.452 GTPBP2 Sarah Leigh Phenotypes for gene: GTPBP2 were changed from Global developmental delay; Intellectual disability; Seizures to Jaberi-Elahi syndrome 617988
Early onset or syndromic epilepsy v0.451 GTPBP2 Sarah Leigh Classified gene: GTPBP2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.451 GTPBP2 Sarah Leigh Gene: gtpbp2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy GTPBP2 Konstantinos Varvagiannis Added gene to panel