Genomics England
GMS Panels
Panels
Genes and Entities

EEF1D

eukaryotic translation elongation factor 1 delta
OMIM: 130592
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150