Clefting
Gene: ESRP2
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.Created: 22 Aug 2019, 4:18 p.m. | Last Modified: 22 Aug 2019, 4:18 p.m.
Panel Version: 1.48
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert listCreated: 22 Aug 2019, 4:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cleft lip
Publications
Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Gene: esrp2 has been classified as Amber List (Moderate Evidence).
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