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| Clefting v1.49 | ESRP2 | Catherine Snow Classified gene: ESRP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.49 | ESRP2 | Catherine Snow Gene: esrp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.49 | ESRP2 | Catherine Snow Classified gene: ESRP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.49 | ESRP2 | Catherine Snow Gene: esrp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.48 | ESRP2 | Catherine Snow edited their review of gene: ESRP2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.48 | ESRP2 | Catherine Snow edited their review of gene: ESRP2: Added comment: PMID: 29805042 Cox et al. Identified ESRP2 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr16:g.68266284C>T;p.Arg315) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant (chr16:g.68265234G>A;p.Arg520*) in another family. ESRP2 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.48 | ESRP2 |
Catherine Snow gene: ESRP2 was added gene: ESRP2 was added to Clefting. Sources: Expert list Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ESRP2 were set to 29805042 Phenotypes for gene: ESRP2 were set to cleft lip Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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