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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.100 | ABCC9 | Achchuthan Shanmugasundram changed review comment from: PMID:24352916 reported a Japanese family with Cantu syndrome, of which the boy had bicoronal synostosis, which was absent in the father. This gene should only be rated red as there is only one case reported so far.; to: PMID:24352916 reported a Japanese family with Cantu syndrome, of which the boy had bicoronal synostosis, which was absent in the father. Craniosynostosis has not previously been reported as part of Cantu syndrome. This gene should only be rated red as there is only one case reported so far. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.100 | ABCC9 | Achchuthan Shanmugasundram Publications for gene: ABCC9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.99 | ABCC9 | Achchuthan Shanmugasundram Mode of inheritance for gene: ABCC9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.98 | ABCC9 | Achchuthan Shanmugasundram reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: None; Publications: 24352916, 36980886; Phenotypes: Hypertrichotic osteochondrodysplasia (Cantu syndrome), OMIM: 239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | ABCC9 | Eleanor Williams Added phenotypes hypertrichotic osteochondrodysplasia, Cantu syndrome 239850 for gene: ABCC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | ABCC9 | Tracy Lester reviewed gene: ABCC9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: hypertrichotic osteochondrodysplasia - 239850 (Cantu syndrome); Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | ABCC9 | Eleanor Williams reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | ABCC9 |
Eleanor Williams gene: ABCC9 was added gene: ABCC9 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: ABCC9 was set to |
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