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Growth failure

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)

Well established gene-disease associations with over 40 families reported with MOPD, more than 10 with Roifman and 4 with Lowry-Wood. All three conditions have short stature as a prominent feature. Note phenotypic overlap, may not be distinct disorders but rather represent a spectrum.
Created: 20 Aug 2021, 3:42 a.m. | Last Modified: 20 Aug 2021, 3:42 a.m.
Panel Version: 0.251

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710)
  • Roifman syndrome (MIM# 616651)
  • Lowry-Wood syndrome, MIM# 226960
Tags
non-coding gene
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
None
Publications
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.

20 Aug 2021, 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 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNU4ATAC were changed from MOPD I to Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960

20 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNU4ATAC were set to 21474760

20 Aug 2021, 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).

19 Jul 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNU4ATAC was added gene: RNU4ATAC was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 21474760 Phenotypes for gene: RNU4ATAC were set to MOPD I