Genomics England
GMS Panels
Panels
Genes and Entities

EIF5A

eukaryotic translation initiation factor 5A
OMIM: 600187
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EIF5A-related craniofacial-neurodevelopmental disorder
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Faundes-Banka syndrome, OMIM:619376
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Faundes-Banka syndrome, OMIM:619376
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.41
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Faundes-Banka syndrome, OMIM:619376