1. Genes and Genomic Entities
  2. GLE1

GLE1

GLE1, RNA export mediator
OMIM: 603371, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Red GLE1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Lethal congenital contracture syndrome 1, 253310
  • LCCS1
  • MULTIPLE CONTRACTURE SYNDROME, FINNISH TYPE
  • Arthrogryposis, lethal, with anterior horn cell disease, 611890
Green GLE1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lethal congenital contracture syndrome 1, 253310
  • Arthrogryposis, lethal, with anterior horn cell disease, 611890
  • lethal arthrogryposis with anterior horn cell disease
Green GLE1 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE
Green GLE1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890
    Red GLE1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    Phenotypes
    • Lethal congenital contracture syndrome 1, 253310
    • Congenital arthrogryposis with anterior horn cell disease, 611890
    • Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death
    Red GLE1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Lethal congenital contracture syndrome 1, 253310
    • Arthrogryposis, lethal, with anterior horn cell disease, 611890
    Red GLE1 in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Lethal congenital contracture syndrome 1, 253310
    • Congenital arthrogryposis with anterior horn cell disease, 611890
    • Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death
    Green GLE1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital arthrogryposis with anterior horn cell disease, 611890
    • Lethal congenital contracture syndrome 1, 253310