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Intellectual disability

Gene: EEF1D

Green List (high 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)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
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: 9.299

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 Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150
OMIM
130592
Clinvar variants
Variants in EEF1D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: EEF1D. Tag Q2_25_ NHS_review was removed from gene: EEF1D.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to EEF1D. Source Expert Review Green was added to EEF1D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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