1. Genes and Genomic Entities
  2. EIF4A3

EIF4A3

eukaryotic translation initiation factor 4A3
OMIM: 608546, Gene2Phenotype

7 panels

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

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.27

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


Version 4.23
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

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


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.111
    Latest signed off version: v4.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green EIF4A3 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Robin sequence with cleft mandible and limb anomalies, 268305