Clefting
Gene: EIF4A3
Richieri-Costa-Pereira syndrome (RCPS is associated with midline cleft mandible, Robin sequence and limb defects. This disorder is caused by decreased levels of EIF4A3, mostly due to an increased number of repeats at the EIF4A3 5′UTR. Currently 27/31 patients reported have Cleft palate/Robin sequence. Initially all patients reported were from Brazil however cases now reported from a French boy (PMID: 10594883) and England boy with Kenyan origin (PMID: 29112243).Created: 21 Aug 2019, 10:43 a.m. | Last Modified: 21 Aug 2019, 10:43 a.m.
Panel Version: 1.43
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Robin sequence with cleft mandible and limb anomalies, 268305; Richieri-Costa-Pereira syndrome
Publications
Mode of inheritance for gene: EIF4A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF4A3 were changed from Cleft palate to Cleft palate; Robin sequence with cleft mandible and limb anomalies, 268305; Richieri-Costa-Pereira syndrome
Publications for gene: EIF4A3 were set to
Gene: eif4a3 has been classified as Green List (High Evidence).
EIF4A3 was added to Clefting panel. Sources: Victorian Clinical Genetics Services
EIF4A3 was created by Ellen McDonagh