1. Genes and Genomic Entities
  2. NEMF

NEMF

nuclear export mediator factor
OMIM: 608378, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green NEMF in Intellectual disability


Level 2: Developmental disorders
Version 9.345
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 Green
    • Literature
    Phenotypes
    • Hypotonia
    • Global developmental delay
    • Intellectual disability
    • Axonal neuropathy
    • Ataxia
    • Abnormal brain imaging
    • Kyphosis
    • Scoliosis
    • Tremor
    • Respiratory distress
    Green NEMF in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.45
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, OMIM:619099