Genomics England
GMS Panels
Panels
Genes and Entities

NEMF

nuclear export mediator factor
OMIM: 608378
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, OMIM:619099
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, Global developmental delay, Intellectual disability, Axonal neuropathy, Ataxia, Abnormal brain imaging, Kyphosis, Scoliosis, Tremor, Respiratory distress