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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | GNPTAB | Eleanor Williams Added phenotypes Mucolipidosis II alpha/beta(I cell disease) 252500 for gene: GNPTAB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | GNPTAB | Tracy Lester reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24891900; Phenotypes: Mucolipidosis II alpha/beta(I cell disease) - 252500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | GNPTAB | Eleanor Williams reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | GNPTAB |
Eleanor Williams Source NHS GMS was added to GNPTAB. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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