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| Retinal disorders v4.77 | JAG1 | Achchuthan Shanmugasundram Classified gene: JAG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.77 | JAG1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.77 | JAG1 | Achchuthan Shanmugasundram Gene: jag1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.76 | JAG1 | Achchuthan Shanmugasundram Phenotypes for gene: JAG1 were changed from Alagille syndrome 1, OMIM:118450 to Alagille syndrome 1, OMIM:118450; exudative vitreoretinopathy, MONDO:0019516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.75 | JAG1 | Achchuthan Shanmugasundram Publications for gene: JAG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.74 | JAG1 |
Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: JAG1. Tag Q1_24_NHS_review tag was added to gene: JAG1. |
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| Retinal disorders v4.74 | JAG1 | Achchuthan Shanmugasundram reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31273345, 34185059; Phenotypes: Alagille syndrome 1, OMIM:118450, exudative vitreoretinopathy, MONDO:0019516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.71 | JAG1 | Siying Lin changed review comment from: Well-demarcated peripheral chorioretinal atrophic changes appear to be a not infrequent finding in patiets with Alagille syndrome, and have also been seen in within our inherited retinal dystrophy clinical cohort.; to: Well-demarcated peripheral chorioretinal atrophic changes appear to be a not infrequent finding in patiets with Alagille syndrome, and these retinal findings have also been seen in at least 2 unrelated patients with Alagille syndrome within our inherited retinal dystrophy clinical cohort | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.71 | JAG1 | Siying Lin reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34185059; Phenotypes: Retinal dystrophy, peripheral chorioretial atrophy, Alagille syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.208 | JAG1 | Arina Puzriakova Phenotypes for gene: JAG1 were changed from to Alagille syndrome 1, OMIM:118450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.207 | JAG1 | Arina Puzriakova Mode of inheritance for gene: JAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.5 | JAG1 | Ivone Leong reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v2.3 | JAG1 |
Ivone Leong gene: JAG1 was added gene: JAG1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: JAG1 was set to |
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