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  3. EIF3A
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DDG2P

Gene: EIF3A

Green List (high evidence)
EIF3A (eukaryotic translation initiation factor 3 subunit A)
EnsemblGeneIds (GRCh38): ENSG00000107581
EnsemblGeneIds (GRCh37): ENSG00000107581
OMIM: 602039, Gene2Phenotype
EIF3A is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism are moderate, monoallelic_autosomal and loss of function (PMID:41033306). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03902.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0100038; EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism
  • MONDO:0100038
OMIM
602039
Clinvar variants
Variants in EIF3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EIF3A was added gene: EIF3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF3A were set to 41033306 Phenotypes for gene: EIF3A were set to EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism; MONDO:0100038