DDG2P
Gene: EIF3B

EIF3B (eukaryotic translation initiation factor 3 subunit B)
EnsemblGeneIds (GRCh38): ENSG00000106263
EnsemblGeneIds (GRCh37): ENSG00000106263
OMIM: 603917, Gene2Phenotype
EIF3B is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for EIF3B-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/G2P03903.
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
EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism

Publications

41033306

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

EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism

OMIM

603917

Clinvar variants

Variants in EIF3B

Penetrance

None

Publications

41033306

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: EIF3B was added gene: EIF3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF3B were set to 41033306 Phenotypes for gene: EIF3B were set to EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism

DDG2P Gene: EIF3B