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Skeletal dysplasia

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 15 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Slender bone dysplasia gp of skeletal dysplasia - >3 cases, so should be green in relation to skeletal dysplasia. Previous amber entry on my behalf is incorrect.
Created: 14 Mar 2019, 10:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Eleanor Williams (Genomics England Curator)

I don't know

Initial rating of Amber uploaded on behalf of Tracy Lester was incorrect. She has now corrected this to green.
Created: 18 Apr 2019, 12:16 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RNU4ATAC; Initial rating suggestion: NONE GIVEN, so given Amber rating when first uploading reviews from Tracy Lester.
Created: 6 Mar 2019, 11:37 a.m.

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.

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Roifman syndrome 616651
  • Microcephalic osteodysplastic primordial dwarfism, type I 210710
Tags
locus-type-rna-small-nuclear
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710 for gene: RNU4ATAC

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to RNU4ATAC. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651

29 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for RNU4ATAC was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

RNU4ATAC was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

RNU4ATAC was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

RNU4ATAC was created by sleigh