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Limb disorders

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 16 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 6 Jan 2017, 4:53 p.m.
Created: 6 Jan 2017, 4:53 p.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 1.3

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and Microcephalic osteodysplastic primordial dwarfism, type I 210710 in G2P. Numerous variants reported in both phenotypes
Created: 29 Jul 2016, 2:20 p.m.
Created: 29 Jul 2016, 2:20 p.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.1127

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:07 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Lowry-Wood syndrome, OMIM:226960
  • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
  • Roifman syndrome, OMIM:616651
Tags
locus-type-rna-small-nuclear
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
None
Panels with this gene

History Filter Activity

29 Jul 2024, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.

24 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 3

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to RNU4ATAC. Panel: Limb disorders Expert list was added to RNU4ATAC. Panel: Limb disorders Expert Review Green was added to RNU4ATAC. Panel: Limb disorders Model of inheritance for gene RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to RNU4ATAC. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RNU4ATAC was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RNU4ATAC was created by Ellen McDonagh