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  2. Skeletal Dysplasia_Fetal
  3. RNU4ATAC
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Skeletal Dysplasia_Fetal

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IUGR. NOTE this gene codes for snRNA, not protein.
Created: 9 Dec 2019, 7:38 p.m. | Last Modified: 28 Feb 2022, 11:27 p.m.
Panel Version: 0.4450

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651

Mode of pathogenicity
Other

Created: 9 Dec 2019, 7:38 p.m.
Last Modified: 28 Feb 2022, 11:27 p.m.
Panel version: Imported from Fetal anomalies panel version Imported from Intellectual disability syndromic and non-syndromic panel version 0.1090

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNU4ATAC was added gene: RNU4ATAC was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RNU4ATAC was set to Unknown