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Gene: RNU4ATAC

Green List (high evidence)

RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 14 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

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

History Filter Activity

14 Mar 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: RNU4ATAC.

20 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnu4atac has been classified as Green List (High Evidence).

20 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3) to RNU4ATAC spectrum disorder MONDO:0100558

20 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNU4ATAC were set to

20 Jan 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: RNU4ATAC.

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNU4ATAC was added gene: RNU4ATAC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)