Activity
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14 actions
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| Retinal disorders v5.15 | RNU4ATAC |
Sarah Leigh Tag locus-type-small-nucleolar was removed from gene: RNU4ATAC. Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. |
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| Retinal disorders v5.15 | RNU4ATAC | Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.90 | RNU4ATAC | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.26 | RNU4ATAC |
Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: RNU4ATAC. Tag Q2_22_NHS_review was removed from gene: RNU4ATAC. |
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| Retinal disorders v3.26 | RNU4ATAC | Achchuthan Shanmugasundram reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v3.25 | RNU4ATAC |
Achchuthan Shanmugasundram 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) |
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| Retinal disorders v2.267 | RNU4ATAC |
Sarah Leigh edited their review of gene: RNU4ATAC: Added comment: 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.; Changed rating: GREEN |
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| Retinal disorders v2.267 | RNU4ATAC |
Sarah Leigh Tag Q2_22_rating tag was added to gene: RNU4ATAC. Tag Q2_22_NHS_review tag was added to gene: RNU4ATAC. |
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| Retinal disorders v2.267 | RNU4ATAC | Sarah Leigh Classified gene: RNU4ATAC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.267 | RNU4ATAC | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.267 | RNU4ATAC | Sarah Leigh Gene: rnu4atac has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.266 | RNU4ATAC | Sarah Leigh Publications for gene: RNU4ATAC were set to PMID: 2801768; 29265708; 30368667 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.265 | RNU4ATAC | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.242 | RNU4ATAC |
Hannah Knight 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 Added comment: 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 |
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