| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mandibulofacial Acrofacial dysostosis v0.80 | OTX2 | Zornitza Stark Marked gene: OTX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v0.80 | OTX2 | Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v0.80 | OTX2 | Zornitza Stark Classified gene: OTX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v0.80 | OTX2 | Zornitza Stark Gene: otx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v0.79 | OTX2 |
Zornitza Stark gene: OTX2 was added gene: OTX2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Expert Review Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 24167467; 25589041; 31969185 Phenotypes for gene: OTX2 were set to Otocephaly-dysgnathia complex Review for gene: OTX2 was set to AMBER Added comment: Three families reported with variants in OTX2 and otocyephaly-dysgnathia. Note variants were inherited in two of the families: in one family, from mother with microphthalmia (recognised OTX2 phenotype) and the other from an unaffected father. Lamb animal model reported. Sources: Expert Review |
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