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Hereditary neuropathy NOT PMP22 copy number

Gene: GLE1

Red List (low evidence)

GLE1 (GLE1, RNA export mediator)
EnsemblGeneIds (GRCh38): ENSG00000119392
EnsemblGeneIds (GRCh37): ENSG00000119392
OMIM: 603371, Gene2Phenotype
GLE1 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Alexander Rossor (UCL Institute of Neurology)

I don't know

Only two families
Created: 6 Jun 2019, 10:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death.

Publications

Details

Mode of Inheritance
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
OMIM
603371
Clinvar variants
Variants in GLE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GLE1 was added gene: GLE1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLE1 were set to 18204449 Phenotypes for gene: GLE1 were set to Lethal congenital contracture syndrome 1, 253310; Congenital arthrogryposis with anterior horn cell disease, 611890; Micrognathia, pulmonary hypoplasia, loss of anterior horn cells, intrauterine death