Arthrogryposis
Gene: LGI4
Comment on list classification: Changed from Amber to Green after clinical reviewCreated: 30 Aug 2017, 11:31 a.m.
New gene/phenotype relationship(s) cataloged in OMIM. AMCNMY is severe neurologic disorder with onset in utero. Most affected individuals die in utero, subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints or die in the neonatal period. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect, Xue et al., 2017 PMID: 28318499. Evidence in 9 offspring from 4 unrelated families.
Need to check with clinical team if this gene should be on this panel. Noted that the disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect, Xue et al., 2017 PMID: 28318499.Created: 17 Aug 2017, 2:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY
Publications
Phenotypes for gene: LGI4 were changed from Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY to Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468
Publications for gene: LGI4 were set to 28318499; 15857855; 16341215
This gene has been classified as Green List (High Evidence).
LGI4 was added to Arthrogryposispanel. Sources: Literature,Other
LGI4 was created by LouiseD