This Panel is marked as Retired
Bilateral microtia
Gene: EIF4A3
EIF4A3 (eukaryotic translation initiation factor 4A3)
EnsemblGeneIds (GRCh38): ENSG00000141543
EnsemblGeneIds (GRCh37): ENSG00000141543
OMIM: 608546, Gene2Phenotype
EIF4A3 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000141543
EnsemblGeneIds (GRCh37): ENSG00000141543
OMIM: 608546, Gene2Phenotype
EIF4A3 is in 6 panels
1 review
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- OMIM
- 608546
- Clinvar variants
- Variants in EIF4A3
- Penetrance
- Complete
- Publications
-
- PubMed: 24360810
- Panels with this gene
History Filter Activity
5 Oct 2016, Gel status: 1
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
13 May 2016, Gel status: 0
Upload gene information
Sarah Leigh (Genomics England Curator)EIF4A3 was added to Bilateral microtiapanel. Sources: Radboud University Medical Center, Nijmegen
13 May 2016, Gel status: 0
Upload gene information
Sarah Leigh (Genomics England Curator)EIF4A3 was added to Bilateral microtiapanel. Sources: Radboud University Medical Center, Nijmegen
3 Apr 2016, Gel status: 0
Created
Maria Bitner-Glindzicz (UCL)EIF4A3 was created by mbitnerg
3 Apr 2016, Gel status: 0
Added New Source
Maria Bitner-Glindzicz (UCL)EIF4A3 was added to Bilateral microtiapanel. Sources: Expert Review