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Intellectual disability

Gene: EEF1D

Amber List (moderate evidence)
EEF1D (eukaryotic translation elongation factor 1 delta)
EnsemblGeneIds (GRCh38): ENSG00000104529
EnsemblGeneIds (GRCh37): ENSG00000104529
OMIM: 130592, Gene2Phenotype
EEF1D is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 1 May 2025, 10:17 a.m. | Last Modified: 1 May 2025, 10:17 a.m.
Panel Version: 9.3
At least 5 unrelated families have been identified with biallelic LOF variants in the EEF1D gene associated with a severe neurodevelopmental disorder. Phenotype is characterised by severe ID/DD and microcephaly but can also include features such as spasticity, optic atrophy, seizures, feeding difficulties, and recurrent aspiration pneumonia.
Created: 1 May 2025, 10:14 a.m. | Last Modified: 1 May 2025, 10:14 a.m.
Panel Version: 9.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150

Publications

Created: 1 May 2025, 10:14 a.m.
Last Modified: 1 May 2025, 10:14 a.m.
Panel version: 9.2

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Green List (high evidence)

Biallelic variants described in at least 5 families from different areas (Syria, Turkey, Oman and China).
Sources: Literature
Created: 27 Apr 2025, 3:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder; OMIM#621150

Publications

Created: 27 Apr 2025, 3:54 p.m.

Panel version: 8.243

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150
Tags
Q2_25_ promote_green Q2_25_ NHS_review
OMIM
130592
Clinvar variants
Variants in EEF1D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EEF1D were changed from Neurodevelopmental disorder; OMIM#621150 to Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150

1 May 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: eef1d has been classified as Amber List (Moderate Evidence).

1 May 2025, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: EEF1D. Tag Q2_25_ NHS_review tag was added to gene: EEF1D.

27 Apr 2025, Gel status: 0

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

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

gene: EEF1D was added gene: EEF1D was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: EEF1D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EEF1D were set to 36576126; 30787422; 38083972; 28097321 Phenotypes for gene: EEF1D were set to Neurodevelopmental disorder; OMIM#621150 Review for gene: EEF1D was set to GREEN