Genomics England
GMS Panels
Panels
Genes and Entities

EIF4A2

eukaryotic translation initiation factor 4A2
OMIM: 601102
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autosomal recessive EIF4A2-related neurodevelopmental disorder, Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455, neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MONDO:0957541
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, OMIM:620455, neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MONDO:0957541