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| Clefting v1.49 | PLEKHA5 | Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic de novo variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic de novo variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.49 | PLEKHA5 | Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic de novo variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.47 | PLEKHA5 | Catherine Snow edited their review of gene: PLEKHA5: Added comment: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v1.47 | PLEKHA5 |
Catherine Snow gene: PLEKHA5 was added gene: PLEKHA5 was added to Clefting. Sources: Expert list Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLEKHA5 were set to 29805042 Phenotypes for gene: PLEKHA5 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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