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| Early onset or syndromic epilepsy v8.179 | RNU6ATAC |
Ida Ertmanska gene: RNU6ATAC was added gene: RNU6ATAC was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: RNU6ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU6ATAC were set to 40975062; 41864208; 41808409 Phenotypes for gene: RNU6ATAC were set to neurodevelopmental disorder, MONDO:0700092; Immune dysregulation, HP:0002958; neonatal diabetes mellitus, MONDO:0016391 Review for gene: RNU6ATAC was set to AMBER Added comment: PMID: 41808409 Mendez et al., 2026 Individual A1 - 14-year-old female with intrauterine growth restriction, microcephaly (Z = -2.05 at 13 yrs), refractory epilepsy, cerebral structural anomalies, ataxia, autism, severe intellectual disability, and marked peripheral eosinophilia. Compound het RNU6ATAC variants: n.28C>T & n.36T>G. Individual B1 - 30-year-old male with immune dysfunction, endocrinopathy, and ectodermal abnormalities (ichthyosis, dystrophic nails, dental anomalies, and alopecia universalis), primary hypothyroidism, failure to thrive, bronchiectasis, chronic inflammatory demyelinating polyneuropathy, and combined variable immunodeficiency (CVID), without neurodevelopmental involvement. Compound het RNU6ATAC variants: n.30C>T & n.64C>G. Individual C1 - 17-year-old male who presents with microcephaly (no severity stated), growth failure, ID / global developmental delay, immunodeficiency, diabetes mellitus (diagnosed at 9 months), hypothyroidism, and severe skeletal dysplasia. Homozygous for n.43G>A. Parents are first cousins. PMID: 41864208 Johnson et al., 2026 Identified 19 individuals with early-onset diabetes (diagnosed <5 years) and additional clinical features who had biallelic pathogenic variants in the novel disease gene RNU6ATAC (n=7) or in RNU4ATAC (n=12). 6/7 individuals had variable additional features of immune dysregulation: sepsis, atopic dermatitis, B cell lymphopenia, low IgA, low IgG, B cell lymphopenia, hypothyroidism (2 sibs), agammaglobulinemia, hypoagammaglobulinemia, immunodeficiency, thyroiditis (2 unrelated patients), alopecia (2 unrelated patients), vitiligo. No microcephaly or developmental delay reported. 3/7 individuals died in early infancy. Among the 4 families with biallelic RNU6ATAC variants, the variants reported were: n.4T>C, n.6G>A, n.43G>A, n.68C>A, n.71C>T (homozygous or compound het). PMID: 40975062 Arriaga et al., 2025 Individual D1 - comp het for RNU6ATAC variants: n.36T>G and n.28C>T. The individual presented with microcephaly, short stature, hypotonia, ID/DD, seizures, ataxia, ventriculomegaly, syndactyly, nystagmus, and oculomotor apraxia. Patient D1 did not have diabetes, hypothyroidism, or immunodeficiency. RNA analysis demonstrated excess minor intron retention. RNU6ATAC has not yet been linked to any phenotypes in OMIM (accessed 31st Mar 2026). Sources: Literature |
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| Early onset or syndromic epilepsy v5.30 | RNU4ATAC | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||