| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Clefting v1.52 | POLR1A | Catherine Snow Phenotypes for gene: POLR1A were changed from cleft lip to cleft palte | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.51 | POLR1A | Catherine Snow Classified gene: POLR1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.51 | POLR1A | Catherine Snow Gene: polr1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.50 | POLR1A |
Catherine Snow commented on gene: POLR1A: PMID: 25913037 : Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies identified POLR1A in three unrelated individuals. One individual had a cleft palate, the other individuals had craniofacial features but not specifically a cleft palate. POLR1A is associated with cleft palate in OMIM based on this paper and is in Gene2Phenotype as a DD Gene, associated with Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE. As insufficient number of cases, classifying as Amber. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.50 | POLR1A |
Catherine Snow gene: POLR1A was added gene: POLR1A was added to Clefting. Sources: Expert list Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1A were set to 25913037 Phenotypes for gene: POLR1A were set to cleft lip Review for gene: POLR1A was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||