1. Genes and Genomic Entities
  2. EIF4A3

EIF4A3

eukaryotic translation initiation factor 4A3
OMIM: 608546, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green EIF4A3 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.37

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Robin sequence with cleft mandible and limb abnormalities, 268305
  • Richieri-Costa-Pereira syndrome
  • Microtia
  • short stature
  • Robin sequence
  • cleft mandible
  • hand anomalies
  • club foot
Tags
  • nucleotide-repeat-expansion
Amber EIF4A3 in Limb disorders


Level 2: Musculoskeletal
Version 7.17
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Robin sequence with cleft mandible and limb anomalies, 268305
    Green EIF4A3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RICHIERI-COSTA-PEREIRA SYNDROME
    Green EIF4A3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • RICHIERI-COSTA-PEREIRA SYNDROME
    Green EIF4A3 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review 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
    Green EIF4A3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Robin sequence with cleft mandible and limb anomalies, 268305
    • Richieri-Costa-Pereira syndrome
    • intellectual disability
    Tags
    • nucleotide-repeat-expansion