Microcephalic Primordial Dwarfism and Slender bone dysplasias

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Roifman syndrome 616651
  • Microcephalic osteodysplastic primordial dwarfism, type I 210710
Tags
non-coding gene
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
None
Panels with this gene

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.

2 Apr 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: RNU4ATAC was added gene: RNU4ATAC was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNU4ATAC were set to Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710