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Retinal disorders

Gene: RNU4ATAC

Amber List (moderate evidence)

RNU4ATAC (RNA, U4atac small nuclear (U12-dependent splicing))
EnsemblGeneIds (GRCh38): ENSG00000264229
EnsemblGeneIds (GRCh37): ENSG00000264229
OMIM: 601428, Gene2Phenotype
RNU4ATAC is in 16 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotypes in OMIM and as definitive Gen2Phen gene for Microcephalic osteodysplastic primordial dwarfism, type I (OMIM:210710) which sometimes includes features of Lowry-Wood syndrome (OMIM:226960) and Roifman syndrome (OMIM:616651) making it relevant to this ophthalimic panel. At least six variants have been reported in at least three cases of Lowry-Wood syndrome (OMIM:226960) and at least six variants have been reported in at least three cases of Roifman syndrome (OMIM:616651).
Hannah Knight (Moorfields Eye Hospital) has also reported two further variants in a case of Lowry-Wood syndrome (OMIM:226960) where the patient shows retinal dystrophy.
Created: 24 May 2022, 4:01 p.m. | Last Modified: 24 May 2022, 4:01 p.m.
Panel Version: 2.267
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 24 May 2022, 3:35 p.m. | Last Modified: 24 May 2022, 3:35 p.m.
Panel Version: 2.267

Hannah Knight (Moorfields Eye Hospital)

Green List (high evidence)

Noted by OMIM to cause Roifman and Lowry-Wood syndrome, both of which have been associated with retinal dystrophy in the literature
Submitted to PanelApp as we have a patient with Lowry-Wood syndrome and a retinal dystrophy, where we believe we have found two pathogenic variants in RNU4ATAC
Sources: Expert Review, Literature
Created: 20 Jan 2022, 12:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy; recurrent bacterial infections; lymphadenopathy; spondyloepiphyseal dysplasia; extreme intrauterine growth retardation; facial dysmorphism; microcephaly; short stature

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Lowry-Wood syndrome, OMIM:226960
  • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
  • Roifman syndrome, OMIM:616651
Tags
Q2_22_rating Q2_22_NHS_review
OMIM
601428
Clinvar variants
Variants in RNU4ATAC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 May 2022, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_22_rating tag was added to gene: RNU4ATAC. Tag Q2_22_NHS_review tag was added to gene: RNU4ATAC.

24 May 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rnu4atac has been classified as Amber List (Moderate Evidence).

24 May 2022, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RNU4ATAC were set to PMID: 2801768; 29265708; 30368667

24 May 2022, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RNU4ATAC were changed from Retinal dystrophy; recurrent bacterial infections; lymphadenopathy; spondyloepiphyseal dysplasia; extreme intrauterine growth retardation; facial dysmorphism; microcephaly; short stature to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651

20 Jan 2022, Gel status: 0

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

Hannah Knight (Moorfields Eye Hospital)

gene: RNU4ATAC was added gene: RNU4ATAC was added to Retinal disorders. Sources: Expert Review,Literature Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to PMID: 2801768; 29265708; 30368667 Phenotypes for gene: RNU4ATAC were set to Retinal dystrophy; recurrent bacterial infections; lymphadenopathy; spondyloepiphyseal dysplasia; extreme intrauterine growth retardation; facial dysmorphism; microcephaly; short stature Penetrance for gene: RNU4ATAC were set to Complete Review for gene: RNU4ATAC was set to GREEN