Activity
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8 actions
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| Malformations of cortical development v7.6 | NFIA | Achchuthan Shanmugasundram Classified gene: NFIA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.6 | NFIA | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.6 | NFIA | Achchuthan Shanmugasundram Gene: nfia has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.5 | NFIA | Achchuthan Shanmugasundram Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects, OMIM:613735 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.4 | NFIA | Achchuthan Shanmugasundram Publications for gene: NFIA were set to 36553517, | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.3 | NFIA | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: NFIA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.3 | NFIA | Achchuthan Shanmugasundram reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27081522, 28452798, 33973697, 36553517; Phenotypes: Brain malformations with or without urinary tract defects, OMIM:613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.3 | NFIA |
Nour Elkhateeb gene: NFIA was added gene: NFIA was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIA were set to 36553517, Added comment: cortical malformations reported in PMID 36553517, and other CNS malformations reported in PMID 36553517 and PMID: 27081522 Sources: Literature |
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