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Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 CTSK Eleanor Williams Added phenotypes Pycnodysostosis 265800 for gene: CTSK
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 CTSK Tracy Lester reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: 21968522, 23175007; Phenotypes: Pycnodysostosis, 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 CTSK Eleanor Williams reviewed gene: CTSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 CTSK Eleanor Williams Source NHS GMS was added to CTSK.
Rating Changed from Green List (high evidence) to Green List (high evidence)