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Rare syndromic craniosynostosis or isolated multisuture synostosis v3.3 NFIA Mafalda Gomes Tag Q2_22_rating was removed from gene: NFIA.
Tag Q2_22_NHS_review was removed from gene: NFIA.
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.3 NFIA Achchuthan Shanmugasundram reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.2 NFIA Mafalda Gomes Source Expert Review Green was added to NFIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.74 NFIA Eleanor Williams Classified gene: NFIA as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.74 NFIA Eleanor Williams Gene: nfia has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.73 NFIA Eleanor Williams Tag Q2_22_rating tag was added to gene: NFIA.
Tag Q2_22_NHS_review tag was added to gene: NFIA.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.73 NFIA Eleanor Williams Classified gene: NFIA as Red List (low evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.73 NFIA Eleanor Williams Added comment: Comment on list classification: As Expert reviewer notes, there are sufficient cases reported with a craniosynostosis phenotype and variants in this gene to promote it to green following GMS review.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.73 NFIA Eleanor Williams Gene: nfia has been classified as Red List (Low Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.72 NFIA Eleanor Williams Phenotypes for gene: NFIA were changed from to Metopic synostosis, hydrocephalus, thin corpus callosum, mild developmental delay, autism, macrocephaly
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.71 NFIA Eleanor Williams Mode of inheritance for gene: NFIA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.70 NFIA Eleanor Williams Publications for gene: NFIA were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.61 NFIA Helen Lord reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35080095, 31754721, 33288889; Phenotypes: Metopic synostosis, hydrocephalus, thin corpus callosum, mild developmental delay, autism, macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.52 NFIA Tracy Lester reviewed gene: NFIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.51 NFIA Eleanor Williams reviewed gene: NFIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.50 NFIA Eleanor Williams gene: NFIA was added
gene: NFIA was added to Craniosynostosis. Sources: NHS GMS
Mode of inheritance for gene: NFIA was set to