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Early onset or syndromic epilepsy v4.196 RNU4ATAC Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I 210710 to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
Early onset or syndromic epilepsy v1.191 RNU4ATAC Rebecca Foulger Source Wessex and West Midlands GLH was added to RNU4ATAC.
Early onset or syndromic epilepsy v1.190 RNU4ATAC Rebecca Foulger Source NHS GMS was added to RNU4ATAC.
Early onset or syndromic epilepsy v1.189 RNU4ATAC Rebecca Foulger reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 RNU4ATAC Tracy Lester reviewed gene: RNU4ATAC: Rating: RED; Mode of pathogenicity: ; Publications: 22581640; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, 210710 , Roifman syndrome, 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1266 RNU4ATAC Sarah Leigh Marked gene: RNU4ATAC as ready
Early onset or syndromic epilepsy v0.1266 RNU4ATAC Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Three case reported of Microcephalic osteodysplastic primordial dwarfism, type I 210710 ()MOPD1 with seizures as part of their phenotype (PMID 21474761;23794361;22786707) . However, not clear from pmid 23794361 & 22786707 whether the cases were related or not. Thirteen more cases of MOPD1 with RNU4ATAC variants were reported (PMID 29370840, 27591150, 27312855, 26641461, 27040866, 25735804, 22581640), but seizures were not reported in any of these.
Early onset or syndromic epilepsy v0.1266 RNU4ATAC Sarah Leigh Gene: rnu4atac has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1264 RNU4ATAC Sarah Leigh Publications for gene: RNU4ATAC were set to 21474761; 23794361; 22786707
Early onset or syndromic epilepsy v0.1263 RNU4ATAC Sarah Leigh Publications for gene: RNU4ATAC were set to
Early onset or syndromic epilepsy v0.1253 RNU4ATAC Sarah Leigh Mode of inheritance for gene: RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1252 RNU4ATAC Sarah Leigh Phenotypes for gene: RNU4ATAC were changed from to Microcephalic osteodysplastic primordial dwarfism, type I 210710
Early onset or syndromic epilepsy RNU4ATAC Zornitza Stark reviewed gene: RNU4ATAC
Early onset or syndromic epilepsy RNU4ATAC Sarah Leigh Added gene to panel