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| Intellectual disability v9.380 | RNU6ATAC | Ida Ertmanska Classified gene: RNU6ATAC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.380 | RNU6ATAC | Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated individuals with biallelic RNU6ATAC variants and intellectual disability / global developmental delay. Hence, this gene should be promoted to Green at the next update, with MOI BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.380 | RNU6ATAC | Ida Ertmanska Gene: rnu6atac has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.379 | RNU6ATAC |
Ida Ertmanska gene: RNU6ATAC was added gene: RNU6ATAC was added to Intellectual disability. Sources: Literature Q2_26_promote_green tags were added to gene: RNU6ATAC. 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 GREEN 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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