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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.70 | ALPL | Eleanor Williams Added comment: Comment on publications: Collmann et al is PMID:18769927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.70 | ALPL | Eleanor Williams Publications for gene: ALPL were set to 19232125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | ALPL | Tracy Lester reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 19232125, Collmann et al 2009 Childs Nerve Syst 25:217-223.; Phenotypes: Hypophosphatasia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | ALPL | Eleanor Williams reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | ALPL |
Eleanor Williams Source NHS GMS was added to ALPL. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis | ALPL | maurizia baldi commented on ALPL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||