11 May 2023
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.63
FREM1
Achchuthan Shanmugasundram Classified gene: FREM1 as Amber List (moderate evidence)
11 May 2023
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.
11 May 2023
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.63
FREM1
Achchuthan Shanmugasundram Gene: frem1 has been classified as Amber List (Moderate Evidence).
11 May 2023
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
11 May 2023
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.61
FREM1
Achchuthan Shanmugasundram Publications for gene: FREM1 were set to
11 May 2023
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
11 May 2023
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
02 Mar 2023
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
11 May 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72
FREM1
Eleanor Williams Added phenotypes Manitoba oculotrichoanal syndrome; bifid nose; trigonocephaly for gene: FREM1
05 Mar 2019
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:
05 Mar 2019
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:
05 Mar 2019
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45
FREM1
Eleanor Williams Source NHS GMS was added to FREM1.