EIF4A3

eukaryotic translation initiation factor 4A3
OMIM: 608546, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green EIF4A3 in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies, MIM# 268305
  • Richieri-Costa-Pereira syndrome
Tags
  • STR

Green EIF4A3 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies, MIM# 268305
  • Richieri-Costa-Pereira syndrome
Tags
  • STR

Green EIF4A3 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies, MIM# 268305
  • Richieri-Costa-Pereira syndrome
Tags
  • STR

Green EIF4A3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies, MIM# 268305
  • Richieri-Costa-Pereira syndrome
Tags
  • STR

Green EIF4A3 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Richieri-Costa-Pereira syndrome
  • Robin sequence with cleft mandible and limb anomalies, 268305
  • Cleft palate
Tags
  • STR

Green EIF4A3 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies, MIM# 268305
  • Richieri-Costa-Pereira syndrome
Tags
  • STR

Green RCPS STR in Repeat Disorders


Version 0.167

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Robin sequence with cleft mandible and limb anomalies MIM#268305
  • Richieri-Costa-Pereira syndrome
Tags
  • paediatric-onset