Activity
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9 actions
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| Structural eye disease v4.16 | NR6A1 | Achchuthan Shanmugasundram Classified gene: NR6A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.16 | NR6A1 | 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 update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.16 | NR6A1 | Achchuthan Shanmugasundram Gene: nr6a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.15 | NR6A1 | Achchuthan Shanmugasundram Phenotypes for gene: NR6A1 were changed from microphthalmia, coloboma to coloboma, MONDO:0001476; microphthalmia, MONDO:0021129 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.14 | NR6A1 | Achchuthan Shanmugasundram Publications for gene: NR6A1 were set to PMID: 40610405 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.13 | NR6A1 | Achchuthan Shanmugasundram Mode of inheritance for gene: NR6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.12 | NR6A1 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: NR6A1. Tag Q3_25_NHS_review tag was added to gene: NR6A1. |
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| Structural eye disease v4.12 | NR6A1 | Achchuthan Shanmugasundram reviewed gene: NR6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40610405; Phenotypes: coloboma, MONDO:0001476, microphthalmia, MONDO:0021129; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v4.9 | NR6A1 |
Siying Lin gene: NR6A1 was added gene: NR6A1 was added to Structural eye disease. Sources: Literature Mode of inheritance for gene: NR6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NR6A1 were set to PMID: 40610405 Phenotypes for gene: NR6A1 were set to microphthalmia, coloboma Penetrance for gene: NR6A1 were set to Incomplete Mode of pathogenicity for gene: NR6A1 was set to Other Review for gene: NR6A1 was set to GREEN Added comment: PMID 40610405: 6 unrelated families with autosomal dominant syndromic form of colobomatous microphthalmia and missing vertebrae with or without congenital kidney abnormalities Sources: Literature |
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