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Arthrogryposis

Gene: GLE1

Green List (high evidence)

GLE1 (GLE1, RNA export mediator)
EnsemblGeneIds (GRCh38): ENSG00000119392
EnsemblGeneIds (GRCh37): ENSG00000119392
OMIM: 603371, Gene2Phenotype
GLE1 is in 7 panels

2 reviews

Julie Vogt (West Midlands Regional Genetics Service)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contracture syndrome 1; lethal arthrogryposis with anterior horn cell disease

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed internally and agreed that this gene should be green.
Created: 7 Jun 2016, 1:33 p.m.
Comment on list classification: Is a confirmed DD gene for ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE. Finish cases reported in OMIM.
Created: 3 May 2016, 12:54 p.m.

Details

Mode of Inheritance
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
OMIM
603371
Clinvar variants
Variants in GLE1
Penetrance
Complete
Publications
  • PMID: 18204449 (Finish cases)
  • PMID: 23421748 a case report where they find a heterozygous variant in GLE1 but cannot be sure whether this is the causative variant.
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

21 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GLE1 was added to Arthrogryposispanel. Source: Expert list

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 May 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GLE1 were set to Lethal congenital contracture syndrome 1, 253310; Arthrogryposis, lethal, with anterior horn cell disease, 611890; lethal arthrogryposis with anterior horn cell disease

3 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GLE1 were set to PMID: 18204449 (Finish cases); PMID: 23421748 a case report where they find a heterozygous variant in GLE1 but cannot be sure whether this is the causative variant.

3 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GLE1 were set to PMID: 18204449 (Finish cases); PMID: 23421748 a case report where they find a heterozygous variant in GLE1 but cannot be sure whether this is the causative variant.

3 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GLE1 were set to PMID: 18204449

3 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GLE1 was changed to BIALLELIC, autosomal or pseudoautosomal

3 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

GLE1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen