Arthrogryposis
Gene: GLE1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 1; lethal arthrogryposis with anterior horn cell disease
Publications
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.
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.
GLE1 was added to Arthrogryposispanel. Source: Expert list
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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
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.
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.
Publications for GLE1 were set to PMID: 18204449
Mode of inheritance for GLE1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
GLE1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen