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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

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
    Amber NEMF in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hypotonia
    • Axonal neuropathy
    • Ataxia
    • Abnormal brain imaging
    • Global developmental delay
    • Intellectual disability
    • Kyphosis
    • Scoliosis
    • Tremor
    • Respiratory distress
    Tags
    • watchlist
    • for-review
    • to_be_confirmed_NHSE