Arthrogryposis
Gene: GLE1

GLE1 (GLE1, RNA export mediator)
EnsemblGeneIds (GRCh38): ENSG00000119392
EnsemblGeneIds (GRCh37): ENSG00000119392
OMIM: 603371, Gene2Phenotype
GLE1 is in 10 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Severe disorder characterised by contractures that involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.

29 Finnish families reported with a founder variant, supportive zebrafish model. Variants in this gene are also associated with milder neuromuscular phenotypes.
Created: 19 May 2022, 6:30 a.m. | Last Modified: 19 May 2022, 6:30 a.m.

Panel Version: 0.342

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 1, MIM# 253310

Publications

PMID: 18204449, 22357925

Created: 19 May 2022, 6:30 a.m.
Last Modified: 19 May 2022, 6:30 a.m.
Panel version: 0.342

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Lethal congenital contracture syndrome 1, MIM# 253310

OMIM

603371

Clinvar variants

Variants in GLE1

Penetrance

None

Publications

Panels with this gene