1. Panels
  2. Clefting
  3. EIF4A3
Genes in panel
Prev Next
STRs in panel
Prev Next

Clefting

Gene: EIF4A3

Green List (high evidence)
EIF4A3 (eukaryotic translation initiation factor 4A3)
EnsemblGeneIds (GRCh38): ENSG00000141543
EnsemblGeneIds (GRCh37): ENSG00000141543
OMIM: 608546, Gene2Phenotype
EIF4A3 is in 6 panels

1 review

Catherine Snow (Genomics England)

Green List (high evidence)

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

Created: 21 Aug 2019, 10:43 a.m.
Last Modified: 21 Aug 2019, 10:43 a.m.
Panel version: 1.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
  • Robin sequence with cleft mandible and limb anomalies, 268305
  • Richieri-Costa-Pereira syndrome
OMIM
608546
Clinvar variants
Variants in EIF4A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: EIF4A3 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Aug 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

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

27 Aug 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: EIF4A3 were set to

27 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: eif4a3 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EIF4A3 was added to Clefting panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

EIF4A3 was created by Ellen McDonagh