Clefting
Gene: PLEKHA5
PLEKHA5 (pleckstrin homology domain containing A5)
EnsemblGeneIds (GRCh38): ENSG00000052126
EnsemblGeneIds (GRCh37): ENSG00000052126
OMIM: 607770, Gene2Phenotype
PLEKHA5 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000052126
EnsemblGeneIds (GRCh37): ENSG00000052126
OMIM: 607770, Gene2Phenotype
PLEKHA5 is in 1 panel
1 review
Catherine Snow (Genomics England)
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.Created: 22 Aug 2019, 4:10 p.m. | Last Modified: 22 Aug 2019, 4:22 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, 4:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cleft lip
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Phenotypes
-
- cleft lip
- OMIM
- 607770
- Clinvar variants
- Variants in PLEKHA5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
22 Aug 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Catherine Snow (Genomics England)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