Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 FGF9 Eleanor Williams Tag Q2_23_promote_green was removed from gene: FGF9.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 FGF9 Eleanor Williams edited their review of gene: FGF9: 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 FGF9 Eleanor Williams Source Expert Review Green was added to FGF9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.30 FGF9 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: FGF9.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.30 FGF9 Achchuthan Shanmugasundram Classified gene: FGF9 as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.30 FGF9 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are two unrelated cases and supporting functional evidence available for this gene. Hence, it can be promoted to GREEN at the next GMS update.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.30 FGF9 Achchuthan Shanmugasundram Gene: fgf9 has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.29 FGF9 Achchuthan Shanmugasundram Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3, OMIM:612961
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.28 FGF9 Achchuthan Shanmugasundram Publications for gene: FGF9 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.27 FGF9 Achchuthan Shanmugasundram Mode of inheritance for gene: FGF9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.26 FGF9 Achchuthan Shanmugasundram reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 12140681, 19589401, 28730625; Phenotypes: Multiple synostoses syndrome 3, OMIM:612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 FGF9 Rebecca Tooze reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 FGF9 Tracy Lester reviewed gene: FGF9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 FGF9 Eleanor Williams reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 FGF9 Eleanor Williams gene: FGF9 was added
gene: FGF9 was added to Craniosynostosis. Sources: NHS GMS
Mode of inheritance for gene: FGF9 was set to