Retinal disorders
Gene: RNU4ATAC
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:08 p.m. | Last Modified: 30 Jan 2023, 2:08 p.m.
Panel Version: 3.26
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
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, LiteratureCreated: 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
Phenotypes for gene: RNU4ATAC were changed from Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651 to Lowry-Wood syndrome, OMIM:226960; Roifman syndrome, OMIM:616651
Tag Q2_22_rating was removed from gene: RNU4ATAC. Tag Q2_22_NHS_review was removed from gene: RNU4ATAC.
Source NHS GMS was added to RNU4ATAC. Source Expert Review Green was added to RNU4ATAC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_22_rating tag was added to gene: RNU4ATAC. Tag Q2_22_NHS_review tag was added to gene: RNU4ATAC.
Gene: rnu4atac has been classified as Amber List (Moderate Evidence).
Publications for gene: RNU4ATAC were set to PMID: 2801768; 29265708; 30368667
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
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