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  3. EEF1D
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Severe microcephaly

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.
Copied from panel: Intellectual disability v9.4

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.

Copied from panel: Intellectual disability v9.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • 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

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

Arina Puzriakova (Genomics England Curator)

gene: EEF1D was added gene: EEF1D was added to Severe microcephaly. Sources: Expert Review Amber,Literature Q2_25_ promote_green, Q2_25_ NHS_review tags were added to gene: EEF1D. 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 with thin corpus callosum, hypotonia, and absent language, OMIM:621150