Activity
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12 actions
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| Retinal disorders v8.97 | DYRK1A |
Eleanor Williams Tag Q3_25_promote_green was removed from gene: DYRK1A. Tag Q3_25_NHS_review was removed from gene: DYRK1A. |
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| Retinal disorders v8.97 | DYRK1A | Eleanor Williams reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.96 | DYRK1A |
Eleanor Williams Source NHS GMS was added to DYRK1A. Source Expert Review Green was added to DYRK1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v8.20 | DYRK1A | Achchuthan Shanmugasundram Classified gene: DYRK1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.20 | DYRK1A | Achchuthan Shanmugasundram Gene: dyrk1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.19 | DYRK1A | Achchuthan Shanmugasundram Tag Q3_25_NHS_review tag was added to gene: DYRK1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.19 | DYRK1A | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: DYRK1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.19 | DYRK1A | Achchuthan Shanmugasundram Phenotypes for gene: DYRK1A were changed from FEVR to Intellectual developmental disorder, autosomal dominant 7, OMIM:614104; Retinal disorder, MONDO:0005283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.18 | DYRK1A | Achchuthan Shanmugasundram Publications for gene: DYRK1A were set to PMID: 40405340; 36736451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | DYRK1A | Ida Ertmanska commented on gene: DYRK1A: Comment on list classification: DYRK1A syndrome patients may present with vision abnormalities, including retinal involvement. There is sufficient evidence available (4 unrelated patients with a retinal phenotype) for the association of monoallelic DYRK1A variants with retinal disorders, which fits into the scope of this panel. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.14 | DYRK1A | Ida Ertmanska reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33159716, 36736451, 40405340, 19081073; Phenotypes: Intellectual developmental disorder, autosomal dominant 7, OMIM:614104, Retinal disorder, MONDO:0005283; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.4 | DYRK1A |
Siying Lin gene: DYRK1A was added gene: DYRK1A was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1A were set to PMID: 40405340; 36736451 Phenotypes for gene: DYRK1A were set to FEVR Mode of pathogenicity for gene: DYRK1A was set to Other Review for gene: DYRK1A was set to GREEN Added comment: PMID 36736451: one individual with DYRK1A syndrome and anomalous retinal vasculature. PMID 40405340: two individuals with FEVR-like presentations and later likely disease-causing DKRY1A variants identified; the retinal phenotype can be the presenting feature of DYRK1A syndrome Sources: Literature |
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