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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.63 FREM1 Achchuthan Shanmugasundram Classified gene: FREM1 as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.63 FREM1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are five cases with heterozygous variants in FREM1 gene associated with craniosynostosis/ trigonocephaly, there is also conflicting evidence suggesting there is no association of heterozygous variants in this gene with craniosynostosis. Hence, this gene can only be rated AMBER with the current evidence.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.63 FREM1 Achchuthan Shanmugasundram Gene: frem1 has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.62 FREM1 Achchuthan Shanmugasundram Phenotypes for gene: FREM1 were changed from Manitoba oculotrichoanal syndrome; bifid nose; trigonocephaly to Trigonocephaly 2, OMIM:614485
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.61 FREM1 Achchuthan Shanmugasundram Publications for gene: FREM1 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.60 FREM1 Achchuthan Shanmugasundram Mode of inheritance for gene: FREM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.59 FREM1 Achchuthan Shanmugasundram reviewed gene: FREM1: Rating: ; Mode of pathogenicity: None; Publications: 21931569, 33038106, 33288889, 33937142; Phenotypes: Trigonocephaly 2, OMIM:614485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 FREM1 Rebecca Tooze reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 FREM1 Eleanor Williams Added phenotypes Manitoba oculotrichoanal syndrome; bifid nose; trigonocephaly for gene: FREM1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 FREM1 Tracy Lester reviewed gene: FREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: bifid nose, Manitoba oculotrichoanal syndrome, trigonocephaly; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 FREM1 Eleanor Williams reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 FREM1 Eleanor Williams Source NHS GMS was added to FREM1.