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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.67 GPC3 Achchuthan Shanmugasundram Classified gene: GPC3 as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.67 GPC3 Achchuthan Shanmugasundram Added comment: Comment on list classification: The evidence is not sufficient for green rating and should be rated AMBER.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.67 GPC3 Achchuthan Shanmugasundram Gene: gpc3 has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.66 GPC3 Achchuthan Shanmugasundram Phenotypes for gene: GPC3 were changed from Simpson-Golabi-Behmel syndrome to Simpson-Golabi-Behmel syndrome, type 1, OMIM:312870
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.65 GPC3 Achchuthan Shanmugasundram Publications for gene: GPC3 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.64 GPC3 Achchuthan Shanmugasundram Mode of inheritance for gene: GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.63 GPC3 Achchuthan Shanmugasundram commented on gene: GPC3: In addition to cases reviewed by Rebecca Tooze (University of Oxford), PMID:19372699 reported a prenatal case identified with hemizygous deletion in GPC3 gene (c.194-206del/ p.Cys65fs) and diagnosed with polyhydramnios, macrosomia, macroglossia, left-sided cleft lip and palate, nephromegaly, hepatosplenomegaly as well as an abnormal skull shape due to lamboid craniosynostosis via ultrasound at 30 weeks off gestation.
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.63 GPC3 Achchuthan Shanmugasundram edited their review of gene: GPC3: Changed publications to: 19372699, 24115482, 25804025, 34429528
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.63 GPC3 Achchuthan Shanmugasundram reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24115482, 25804025, 34429528; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, OMIM:312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 GPC3 Rebecca Tooze reviewed gene: GPC3: 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 GPC3 Eleanor Williams Added phenotypes Simpson-Golabi-Behmel syndrome for gene: GPC3
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 GPC3 Tracy Lester reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 GPC3 Eleanor Williams reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 GPC3 Eleanor Williams Source NHS GMS was added to GPC3.