EIF3A:Ensemblv90

eukaryotic translation initiation factor 3 subunit A
OMIM: 602039, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green EIF3A in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease (MONDO:0002254), EIF3A-related

Green EIF3A in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease (MONDO:0002254), EIF3A-related

Green EIF3A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease (MONDO:0002254), EIF3A-related

Green EIF3A in Fetal anomalies


Version 1.482

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease (MONDO:0002254), EIF3A-related

Green EIF3A in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Syndromic disease (MONDO:0002254), EIF3A-related