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Gene: RNU4ATAC

Green List (high evidence)

According to OMIM, the RNU4ATAC gene is associated with 3 conditions. Lowry-Wood syndrome MIM#226960; Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710 (MOPD1); Roifman syndrome MIM#616651. MOPD1 is at the severe end of the spectrum (GeneReviews PMID: 36795902).

However, according to GeneReviews (PMID: 36795902), these three conditions are a phenotypic spectrum. As per gene profile, these can be called RNU4ATAC spectrum disorder (MONDO:0100558).

Findings present in affected individuals include growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involmement (GeneReviews PMID: 36795902).

Variants in Stem II are exclusively Roifman with some variants overlapping with the MOPD1 cluster, which is in 5’ Stem-loop (PMID: 26522830).

NB: this gene codes for snRNA, therefore it is NOT protein coding.

Created: 20 Jan 2025, 12:59 a.m. | Last Modified: 20 Jan 2025, 12:59 a.m.

Panel Version: 1.1235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RNU4ATAC spectrum disorder MONDO:0100558

Publications

• 36795902
• 26522830