Deafness and congenital structural abnormalities
Gene: EIF4A3Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. One nucleotide repeat expansion variant in 5'UTR reported in 21 affected individuals from 18 Brazilian families. Two further nucleotide repeat expansion variants and one missense variant reported. Animal model supports involvement of this gene in development of craniofacial anomalies.Created: 14 Sep 2016, 9:25 a.m.
Comment on list classification: Green gene on the Familial hemifacial microsomia (Version 0.148) gene panels which was combined to create this panel.Created: 14 Oct 2016, 11:52 a.m.
Comment on list classification: Gene added by Maria Bitner-Glindzicz (UCL) to the Bilateral Microtia panel.Created: 12 Sep 2016, 2:55 p.m.
Richieri-Costa and Pereira (1992) described a seemingly distinct entity in 5 unrelated Brazilian patients. The features were short stature, Robin sequence, cleft mandible, and limb defects. The ears were low set and prominent. Retromicrognathia, microstomia, highly arched palate, and cleft lower alveolar ridge was accompanied by hypoplastic mandible and cleft through the midline with absence of the lower incisors by x-ray. The thumbs were hypoplastic, as was the distal part of the tibias with proximal and lateral displacement of the fibulas and clubfoot.Created: 1 Aug 2016, 11:40 a.m.
This syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears (MICROTIA) and a highly arched palate were also observed. Transmission is autosomal recessive.Created: 1 Aug 2016, 11:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microtia; short stature; Robin sequence; cleft mandible; hand anomalies; club foot
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: EIF4A3 were set to Robin sequence with cleft mandible and limb abnormalities, 268305; Richieri-Costa-Pereira syndrome; Microtia; short stature; Robin sequence; cleft mandible; hand anomalies; club foot
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
Phenotypes for EIF4A3 were set to Robin sequence with cleft mandible and limb abnormalities, 268305; Robin sequence with cleft mandible and limb abnormalities 268305; Richieri-Costa-Pereira syndrome;Microtia; short stature; Robin sequence; cleft mandible; hand anomalies; club foot
Publications for EIF4A3 were set to 24360810;9284755;9449664
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
EIF4A3 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review,Radboud University Medical Center, Nijmegen
EIF4A3All sources for gene: EIF4A3 were removed
EIF4A3 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green
EIF4A3 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Amber
EIF4A3 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert Review,Radboud University Medical Center, Nijmegen
EIF4A3 was created by sleigh