1. Genes and Genomic Entities
  2. EEF1D

EEF1D

eukaryotic translation elongation factor 1 delta
OMIM: 130592, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber EEF1D in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review 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
Amber EEF1D in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150
    Tags
    • Q2_25_ promote_green
    • Q2_25_ NHS_review