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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 NFIX Eleanor Williams Tag Q2_23_promote_green was removed from gene: NFIX.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 NFIX Eleanor Williams edited their review of gene: NFIX: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 NFIX Eleanor Williams Source Expert Review Green was added to NFIX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.44 NFIX Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: NFIX.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.44 NFIX Achchuthan Shanmugasundram Classified gene: NFIX as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.44 NFIX Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there is sufficient evidence (4 unrelated cases) available for promotion of this gene to GREEN rating in the next GMS update.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.44 NFIX Achchuthan Shanmugasundram Gene: nfix has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.43 NFIX Achchuthan Shanmugasundram Phenotypes for gene: NFIX were changed from Marshall-Smith syndrome to Malan syndrome, OMIM:614753; Marshall-Smith syndrome, OMIM:602535; craniosynostosis, MONDO:0015469
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.42 NFIX Achchuthan Shanmugasundram edited their review of gene: NFIX: Changed phenotypes to: Malan syndrome, OMIM:614753, Marshall-Smith syndrome, OMIM:602535, craniosynostosis, MONDO:0015469
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.42 NFIX Achchuthan Shanmugasundram Publications for gene: NFIX were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.41 NFIX Achchuthan Shanmugasundram Mode of inheritance for gene: NFIX was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.40 NFIX Achchuthan Shanmugasundram reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33288889, 35997807; Phenotypes: Malan syndrome, OMIM:614753, Marshall-Smith syndrome, OMIM:602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 NFIX Rebecca Tooze reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 NFIX Eleanor Williams Added phenotypes Marshall-Smith syndrome for gene: NFIX
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 NFIX Tracy Lester reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Marshall-Smith syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 NFIX Eleanor Williams reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 NFIX Eleanor Williams gene: NFIX was added
gene: NFIX was added to Craniosynostosis. Sources: NHS GMS
Mode of inheritance for gene: NFIX was set to