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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.12 | ZIC1 | Arina Puzriakova Phenotypes for gene: ZIC1 were changed from Craniosynostosis 6 616602; 616602 to ?Craniosynostosis 6, 616602; Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.11 | ZIC1 | Arina Puzriakova Added comment: Comment on publications: Added publications to support gene-disease association | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.11 | ZIC1 | Arina Puzriakova Publications for gene: ZIC1 were set to 26340333 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | ZIC1 | Eleanor Williams Added phenotypes Craniosynostosis 6 616602 for gene: ZIC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | ZIC1 | Tracy Lester reviewed gene: ZIC1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 26340333; Phenotypes: Craniosynostosis 6 - 616602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | ZIC1 | Eleanor Williams reviewed gene: ZIC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | ZIC1 |
Eleanor Williams Source NHS GMS was added to ZIC1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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