Clefting
Gene: PLEKHA7
PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a likely pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.Created: 22 Aug 2019, 4:02 p.m. | Last Modified: 22 Aug 2019, 4:26 p.m.
Panel Version: 1.49
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert listCreated: 22 Aug 2019, 3:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cleft lip
Publications
Gene: plekha7 has been classified as Amber List (Moderate Evidence).
gene: PLEKHA7 was added gene: PLEKHA7 was added to Clefting. Sources: Expert list Mode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLEKHA7 were set to 29805042 Phenotypes for gene: PLEKHA7 were set to cleft lip Review for gene: PLEKHA7 was set to AMBER